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Results 1 - 5 of 5 for "Hermansky-Pudlak" syndrome 9
  1. Hermansky-Pudlak syndrome 
    ... symptoms, and severity of types 7, 8, and 9. Hermansky-Pudlak syndrome is a rare disorder in most populations and ... Wei AH, He X, Li W. Hypopigmentation in Hermansky-Pudlak syndrome. J Dermatol. 2013 May;40(5):325-9. doi: 10.1111/1346-8138.12025. Citation on ...
    https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome - Genetics
  2. HPS1 gene 
    ... Linford A, Barr FA. BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. Curr Biol. 2012 Nov 20;22(22):2135-9. doi: 10.1016/j.cub.2012.09.020. ...
    https://medlineplus.gov/genetics/gene/hps1 - Genetics
  3. HPS3 gene 
    ... in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. Platelets. 2007 ... Citation on PubMed Santiago Borrero PJ, Rodriguez-Perez ...
    https://medlineplus.gov/genetics/gene/hps3 - Genetics
  4. Chediak-Higashi syndrome 
    ... CHS PubMed Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation ... Curr Opin Hematol. 2008 Jan;15(1):22-9. doi: 10.1097/MOH.0b013e3282f2bcce. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/chediak-higashi-syndrome - Genetics
  5. LYST gene 
    ... Gene ClinVar Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation ... Curr Opin Hematol. 2008 Jan;15(1):22-9. doi: 10.1097/MOH.0b013e3282f2bcce. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/lyst - Genetics