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33 results
  1. Hermansky-Pudlak syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome
    ... gov Catalog of Genes and Diseases from OMIM HERMANSKY-PUDLAK SYNDROME 1; HPS1 Scientific Articles on PubMed PubMed References Bultema JJ, Ambrosio AL, Burek CL, Di Pietro ...
  2. Pulmonary Fibrosis 
    https://medlineplus.gov/pulmonaryfibrosis.html
    Pulmonary fibrosis (Idiopathic pulmonary fibrosis or IPF) is a condition where the tissue deep in the lungs becomes scarred over time. Find symptoms. ... Pulmonary fibrosis ...
  3. Chediak-Higashi syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/chediak-higashi-syndrome
    ... HIGASHI SYNDROME; CHS Scientific Articles on PubMed PubMed References Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation ...
  4. Chediak-Higashi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5188
    ... Higashi syndrome National Library of Medicine Genetics Home Reference Chediak-Higashi syndrome Hermansky-Pudlak Syndrome Network, Inc. One South Road Oyster Bay ...
  5. LYST gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/lyst
    ... LYST Gene and Variant Databases NCBI Gene ClinVar References Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation ...
  6. HPS3 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/hps3
    ... Gene BLOC2S1 DKFZp686F0413 FLJ22704 Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome 3 ... References Anikster Y, Huizing M, White J, Shevchenko YO, ...
  7. HPS1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/hps1
    ... a Hermansky-Pudlak syndrome 1 protein isoform c Hermansky-Pudlak syndrome type 1 HPS HPS1_HUMAN MGC5277 ... References Carmona-Rivera C, Simeonov DR, Cardillo ND, Gahl ...
  8. Oculocutaneous Albinism Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1166
    ... skin and hair (OCA1B) includes OCA2 , OCA3, OCA4 , Hermansky-Pudlak syndromes 1-7, and X-linked (Nettleship-Falls) ocular ... OCA4 is inherited in an autosomal recessive manner. Hermansky-Pudlak syndromes (HPS) are nine multisystem disorders characterized by oculocutaneous ...
  9. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Ashkenazi ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535149
    ... 1100delC -- 17% c.470T>C p.Ile157Thr 11% Hermansky-Pudlak syndrome AR HPS3 c.1163+1G>A -- 80% 1/ ... JR, Kaiser-Kupfer MI, White JG, Gahl WA. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non- ...
  10. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome</url><title >Hermansky-Pudlak syndrome</title><other_names >< ...
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