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hermanskyのパドラック症候群 - 色素沈着や出血を減少の原因多臓器疾患を継承
に定義されています Hermanskyのパドラック症候群
Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).
いくつかの共通の現象
足にあざ
咳
呼吸困難
顔の発疹
いくつかの関連診断
1 - 7 of
167
診断
アルファ1アンチトリプシン欠損
食物アレルギー
第V因子ライデン血栓
嚢胞性線維症
ヒト免疫不全ウイルス感染症
薬物や毒素
肺性心
より
私はありますか? 'Hermanskyのパドラック症候群'?
加えて、以下の診断テストをされるとの診断に役立つかどうかを確認する必要があります:
診断テストの検索結果を得るために 'hermanskyのパドラック症候群'
1 - 5 of
17
診断テスト
分子遺伝学的研究
Hermanskyのパドラック症候群 および 分子遺伝学的研究
活性化部分トロンボプラスチン時間
Hermanskyのパドラック症候群 および 活性化部分トロンボプラスチン時間
時間を出血
Hermanskyのパドラック症候群 および 時間を出血
血、血小板数
Platelet Count
Hermanskyのパドラック症候群 および 血、血小板数
プロトロンビン時間のPT
Hermanskyのパドラック症候群 および プロトロンビン時間のPT
肺機能検査
Hermanskyのパドラック症候群 および 肺機能検査
電子顕微鏡血小板
Hermanskyのパドラック症候群 および 電子顕微鏡血小板
毛球培養試験
Hermanskyのパドラック症候群 および 毛球培養試験
血小板凝集
Hermanskyのパドラック症候群 および 血小板凝集
生検のスキンです
Hermanskyのパドラック症候群 および 生検のスキンです
骨は、密度がスキャン
DEXA scan
Hermanskyのパドラック症候群 および 骨は、密度がスキャン
CTの胸部
Hermanskyのパドラック症候群 および CTの胸部
HRCT上高分解能CTの胸部
Hermanskyのパドラック症候群 および HRCT上高分解能CTの胸部
ビジュアルは、潜在的なVEPのを誘発
Hermanskyのパドラック症候群 および ビジュアルは、潜在的なVEPのを誘発
リストセチン補
Hermanskyのパドラック症候群 および リストセチン補
CTスキャン
Hermanskyのパドラック症候群 および CTスキャン
キャピラリーの脆弱性のテスト
Hermanskyのパドラック症候群 および キャピラリーの脆弱性のテスト
詳細については、ログインしてください、ログイン情報(クリックしてログインする)無料です
治療の手順を 'Hermanskyのパドラック症候群'?
常に患者さんの健康管理や介護のプロバイダによって決定されるべき疾患の治療. 下記の手順または関連する治療薬の一覧です Hermansky Pudlak Syndrome:
治療の手順の検索結果 'hermanskyのパドラック症候群'
ランキングは、コンピュータが生成されます. あなたの健康管理プロバイダを参照してください.
薬の検索結果 'hermanskyのパドラック症候群'
1 - 1 of
1
薬
ランキングは、コンピュータが生成されます. あなたの健康管理プロバイダを参照してください.
Desmopressin acetate
Hermanskyのパドラック症候群 および Desmopressin acetate
ウェブ検索結果調査のための hermanskyのパドラック症候群
ウェブ(すべて)
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治療
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薬
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テスト
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調査
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ダイエット
その結果
1 - 50
- Albinism occulocutaneous
Hermansky Pudlak Syndrome - Yahoo! Health
Important It is possible that the main title of the report Hermansky Pudlak Syndrome is not the name you expected. Please check the synonyms listing to find the ...
http://health.yahoo.com/skinconditions-resources/hermansky-p...
health.yahoo.com
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summary
Hermansky-Pudlak syndrome - Wikipedia, the free encyclopedia
Hermansky-Pudlak syndrome in a Swiss population" (Free full text) ... Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member ...
http://en.wikipedia.org/wiki/Hermansky-Pudlak_syndrome
en.wikipedia.org
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summary
Hermansky-Pudlak syndrome 6 (HPS6)
Homo sapiens Hermansky-Pudlak syndrome-6 protein (HPS6) mRNA, complete cds. PA. BC064917.1. Homo sapiens Hermansky-Pudlak syndrome 6, mRNA (cDNA clone IMAGE: ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=125133
www.ncbi.nlm.nih.gov
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summary
Hermansky-Pudlak syndrome 1 (HPS1)
Homo sapiens Hermansky-Pudlak syndrome 1, mRNA (cDNA clone IMAGE:2900987) ... Homo sapiens alternative Hermansky-Pudlak syndrome associated protein (HPS) mRNA, ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=404568
www.ncbi.nlm.nih.gov
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summary
Hermansky-Pudlak syndrome 5 (HPS5)
Human protein-coding gene HPS5. Represented by 238 ESTs from 135 cDNA libraries. ... Homo sapiens Hermansky-Pudlak syndrome 5, mRNA (cDNA clone MGC:45180 IMAGE: ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=437599
www.ncbi.nlm.nih.gov
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summary
Hermansky-Pudlak Syndrome - Yahoo! Health
Hermansky-Pudlak Syndrome Network. International network. 2 ... Hermansky-Pudlak Syndrome Network. 1 South Rd. Donna Jean Appell. Oyster Bay, NY 11771-1905 ...
http://health.yahoo.com/other-other/hermansky-pudlak-syndrom...
health.yahoo.com
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summary
Hermansky-Pudlak syndrome 3 (HPS3)
Homo sapiens Hermansky-Pudlak syndrome 3, mRNA (cDNA clone ... Homo sapiens cDNA FLJ58519 complete cds, highly similar to Hermansky-Pudlak syndrome 3 protein ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=591311
www.ncbi.nlm.nih.gov
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summary
Hermansky-Pudlak syndrome 3 homolog (human) (Hps3)
Hermansky-Pudlak syndrome 3 homolog (human) (Hps3) SELECTED PROTEIN ... Mus musculus Hermansky-Pudlak syndrome type-3 protein (Hps3) mRNA, complete cds. P ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=291533
www.ncbi.nlm.nih.gov
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summary
Hermansky-Pudlak syndrome 5 homolog (human) (Hps5)
Mouse protein-coding gene Hps5. Represented by 174 ESTs from 84 cDNA libraries. ... Mus musculus Hermansky-Pudlak syndrome 5 homolog (human), mRNA (cDNA clone IMAGE: ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=379442
www.ncbi.nlm.nih.gov
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Albinism
Hermansky-Pudlak syndrome (HPS) is a form of albinism caused by a single gene. ... Hermansky-Pudlak syndrome can, however, shorten lifespan due to lung disease or ...
http://adam.about.com/encyclopedia/infectiousdiseases/Albinism.htm
adam.about.com
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summary
Hermansky-Pudlak syndrome 1 homolog (human) (Hps1)
Hermansky-Pudlak syndrome 1 homolog (human) (Hps1) SELECTED PROTEIN SIMILARITIES ... Rattus norvegicus Hermansky-Pudlak syndrome protein variant (Hps) mRNA, complete ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=17691
www.ncbi.nlm.nih.gov
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summary
Hermansky-Pudlak Syndrome -- GeneReviews -- NCBI Bookshelf
Hermansky-Pudlak syndrome (HPS) is a multi-system disorder characterized by ... All types of Hermansky-Pudlak syndrome (HPS) are inherited in an autosomal ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hps
www.ncbi.nlm.nih.gov
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summary
Hermansky-Pudlak syndrome 4 (HPS4)
Human protein-coding gene HPS4. Represented by 513 ESTs from 194 cDNA libraries. ... Homo sapiens Hermansky-Pudlak syndrome 4, mRNA (cDNA clone MGC:70469 IMAGE: ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=474436
www.ncbi.nlm.nih.gov
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summary
Chediak-Higashi syndrome - References - Genetics Home Reference
Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle ... Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related ...
http://ghr.nlm.nih.gov/condition=chediakhigashisyndrome/show/References
ghr.nlm.nih.gov
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summary
Hermansky-Pudlak syndrome 6 (Hps6)
Mouse protein-coding gene Hps6. Represented by 74 ESTs from 34 cDNA libraries. ... Mus musculus Hermansky-Pudlak syndrome 6, mRNA (cDNA clone MGC:31055 IMAGE: ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=101110
www.ncbi.nlm.nih.gov
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summary
Hermansky-Pudlak syndrome 1 homolog (human) (Hps1)
Mus musculus Hermansky-Pudlak syndrome 1 homolog (human), mRNA (cDNA clone IMAGE: ... Mus musculus Hermansky-Pudlak syndrome protein homolog (Hps) mRNA, ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=218381
www.ncbi.nlm.nih.gov
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summary
Hermansky-Pudlak syndrome 4 homolog (human) (Hps4)
Mouse protein-coding gene Hps4. Represented by 198 ESTs from 82 cDNA libraries. ... Mus musculus Hermansky-Pudlak syndrome 4 homolog (human), mRNA (cDNA clone MGC: ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=238043
www.ncbi.nlm.nih.gov
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summary
Hermansky-Pudlak syndrome 4 homolog (human) (Hps4)
Norway rat protein-coding gene Hps4. Represented by 40 ESTs from 30 cDNA ... Rattus norvegicus Hermansky-Pudlak syndrome 4 homolog (human), mRNA (cDNA clone ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=18930
www.ncbi.nlm.nih.gov
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summary
Hermansky-Pudlak syndrome 6 (Hps6)
Norway rat protein-coding gene Hps6. Represented by 21 ESTs from 18 cDNA ... Rattus norvegicus Hermansky-Pudlak syndrome 6, mRNA (cDNA clone MGC:93064 IMAGE: ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=69203
www.ncbi.nlm.nih.gov
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Hermansky-Pudlak syndrome: radiography and CT of the chest compared ...
For patients with Hermansky-Pudlak syndrome who were 30 years old or younger, ... Hermansky-Pudlak syndrome and correlates well with patient age, extent of ...
http://www.ncbi.nlm.nih.gov/pubmed/12239031
www.ncbi.nlm.nih.gov
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summary
Melanosome morphologies in murine models of hermansky-pudlak syndrome ...
Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by ... Many of the Hermansky-Pudlak syndrome genes remain uncharacterized and their ...
http://www.ncbi.nlm.nih.gov/pubmed/12445206?dopt=Citation
www.ncbi.nlm.nih.gov
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summary
WebMD Health A-Z - Find reliable health and medical information on ...
Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable ... Hermansky Pudlak Syndrome. Hermaphrodism ...
http://www.webmd.com/a-to-z-guides/health-topics/ha-he.htm
www.webmd.com
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summary
Hermansky-Pudlak syndrome and related disorders of organelle formation.
Hermansky-Pudlak syndrome (HPS) consists of a group of genetically heterogeneous ... Hermanski-Pudlak Syndrome/genetics* Hermanski-Pudlak Syndrome/pathology. Humans ...
http://www.ncbi.nlm.nih.gov/pubmed/11208073
www.ncbi.nlm.nih.gov
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Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome ...
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. ... this suggested the diagnosis of Hermansky-Pudlak syndrome type II (HPSII) and a ...
http://www.ncbi.nlm.nih.gov/pubmed/16551969
www.ncbi.nlm.nih.gov
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summary
Granulomatous enterocolitis associated with Hermansky-Pudlak syndrome.
BACKGROUND: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder. ... Hermanski-Pudlak Syndrome/drug therapy. Humans. Male. Middle Aged ...
http://www.ncbi.nlm.nih.gov/pubmed/16848805
www.ncbi.nlm.nih.gov
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summary
Talk:Hermansky-Pudlak syndrome - Wikipedia, the free encyclopedia
Talk:Hermansky-Pudlak syndrome. From Wikipedia, the free encyclopedia. Jump to: navigation, search ... en.wikipedia.org/wiki/Talk:Hermansky-Pudlak_syndrome" ...
http://en.wikipedia.org/wiki/Talk:Hermansky-Pudlak_syndrome
en.wikipedia.org
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Complicated granulomatous colitis in a patient with Hermansky-Pudlak ...
... a patient with Hermansky-Pudlak syndrome, successfully treated with ... Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder which is ...
http://www.ncbi.nlm.nih.gov/pubmed/16929618
www.ncbi.nlm.nih.gov
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summary
Hermansky-Pudlak syndrome: a disease of protein trafficking and ...
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. ... The Hermansky-Pudlak syndrome (HPS) is a collection of related autosomal ...
http://www.ncbi.nlm.nih.gov/pubmed/16420244?dopt=Citation
www.ncbi.nlm.nih.gov
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HPS4 - NextBio
HPS4: Hermansky-Pudlak syndrome is a disorder of organelle biogenesis in which ... meiotic consequences of aneuploidy using mouse models of Down Syndrome ...
http://www.nextbio.com/b/home/home.nb?q=HPS4&tab=trials
www.nextbio.com
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summary
Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis ...
Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and ... BACKGROUND & AIMS: Hermansky-Pudlak syndrome (HPS), a rare autosomal recessive ...
http://www.ncbi.nlm.nih.gov/pubmed/16431308
www.ncbi.nlm.nih.gov
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The Hermansky-Pudlak syndrome. Report of three cases and review of ...
1: Medicine (Baltimore). 1985 May;64(3):192-202. The Hermansky-Pudlak syndrome. ... immunological defect(s) is related to the Hermansky-Pudlak syndrome is not known. ...
http://www.ncbi.nlm.nih.gov/pubmed/3921802
www.ncbi.nlm.nih.gov
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Hermansky-Pudlak syndrome in a Swiss population.
... Dermatology. 1993;187(4):248-56. Hermansky-Pudlak syndrome in a Swiss population. ... positive albinism, previously diagnosed as Hermansky-Pudlak Syndrome (HPS) ...
http://www.ncbi.nlm.nih.gov/pubmed/8274781
www.ncbi.nlm.nih.gov
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Hermansky - Pudlak syndrome and Chediak-Higashi syndrome: disorders ...
Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle ... Higashi Syndrome diagnosis etiology genetics Hermanski-Pudlak Syndrome diagnosis ...
http://www.ncbi.nlm.nih.gov/pubmed/11487012
www.ncbi.nlm.nih.gov
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Mutation of a new gene causes a unique form of Hermansky-Pudlak ...
... causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of ... Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder ...
http://www.ncbi.nlm.nih.gov/pubmed/11455388
www.ncbi.nlm.nih.gov
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The gene for the muted (mu) mouse, a model for Hermansky-Pudlak ...
... mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein ... (mu) mouse is a model for Hermansky-Pudlak Syndrome (HPS), an inherited disorder ...
http://www.ncbi.nlm.nih.gov/pubmed/11912185
www.ncbi.nlm.nih.gov
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BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene ...
... complex containing the Hermansky-Pudlak syndrome gene products HPS1 and ... The Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by ...
http://www.ncbi.nlm.nih.gov/pubmed/12756248
www.ncbi.nlm.nih.gov
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Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome ...
... (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of ... Hermansky-Pudlak syndrome (HPS), a disorder of organelle biogenesis, affects ...
http://www.ncbi.nlm.nih.gov/pubmed/15265785
www.ncbi.nlm.nih.gov
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HPS1 - Wikipedia, the free encyclopedia
a b "Entrez Gene: HPS1 Hermansky-Pudlak syndrome 1" ... A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. ...
http://en.wikipedia.org/wiki/HPS1
en.wikipedia.org
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Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto ...
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican ... Hermansky-Pudlak syndrome (HPS), consisting of oculocutaneous albinism and a ...
http://www.ncbi.nlm.nih.gov/pubmed/11590544
www.ncbi.nlm.nih.gov
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HPS3 - Wikipedia, the free encyclopedia
a b "Entrez Gene: HPS3 Hermansky-Pudlak syndrome 3" ... Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican ...
http://en.wikipedia.org/wiki/HPS3
en.wikipedia.org
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Encyclopedia H-Hz on Yahoo! Health
Hepatorenal Syndrome. Herceptin. Hereditary Hemorrhagic Telangiectasia. Hermansky Pudlak Syndrome. Hermansky-Pudlak Syndrome. Hermaphroditism, True ...
http://health.yahoo.com/ency/h/
health.yahoo.com
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Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human ...
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of ... Hermansky-Pudlak syndrome (HPS) is a disorder of organelle biogenesis in which ...
http://www.ncbi.nlm.nih.gov/pubmed/11836498
www.ncbi.nlm.nih.gov
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203300
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203300
www.ncbi.nlm.nih.gov
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LYST - References - Genetics Home Reference
Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle ... and cell biological aspects of Chediak-Higashi syndrome. Mol Genet Metab. ...
http://ghr.nlm.nih.gov/gene=lyst/show/References
ghr.nlm.nih.gov
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607521
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607521
www.ncbi.nlm.nih.gov
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User:Mamcinty/Hermansky-Pudlak syndrome - Wikipedia, the free encyclopedia
User:Mamcinty/Hermansky-Pudlak syndrome. From Wikipedia, the free encyclopedia < User:Mamcinty ... wikipedia.org/wiki/User:Mamcinty/Hermansky-Pudlak_syndrome" ...
http://en.wikipedia.org/wiki/User:Mamcinty/Hermansky-Pudlak_syndrome
en.wikipedia.org
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607522
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607522
www.ncbi.nlm.nih.gov
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HPS4 - Wikipedia, the free encyclopedia
a b "Entrez Gene: HPS4 Hermansky-Pudlak syndrome 4" ... Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of ...
http://en.wikipedia.org/wiki/HPS4
en.wikipedia.org
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summary
Cellular, molecular and clinical characterization of patients with ...
... and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. ... Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelles ...
http://www.ncbi.nlm.nih.gov/pubmed/15296495
www.ncbi.nlm.nih.gov
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summary
Identification of a homozygous deletion in the AP3B1 gene causing ...
... homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. ... Hermanski-Pudlak Syndrome/pathology. Homozygote. Humans. Killer Cells, ...
http://www.ncbi.nlm.nih.gov/pubmed/16537806
www.ncbi.nlm.nih.gov
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summary
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API - Catalyst
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