Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.

TitleIdentification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.
Publication TypeJournal Article
Year of Publication2016
AuthorsYousaf, S, Shahzad, M, Kausar, T, Sheikh, SA, Tariq, N, Shabbir, AS, Ali, M, Waryah, AM, Shaikh, RS, Riazuddin, S, Ahmed, ZM
Corporate AuthorsUniversity of Washington Center for Mendelian Genomics
JournalPigment Cell Melanoma Res
Volume29
Issue2
Pagination231-5
Date Published2016 Mar
ISSN1755-148X
KeywordsAdolescent, Adult, Alleles, Child, Child, Preschool, Female, Hermanski-Pudlak Syndrome, Humans, Infant, Male, Membrane Proteins, Middle Aged, Pakistan, Pedigree
DOI10.1111/pcmr.12438
Alternate JournalPigment Cell Melanoma Res
PubMed ID26575419
PubMed Central IDPMC5062593
Grant ListU54 HG006493 / HG / NHGRI NIH HHS / United States
UM1 HG006504 / HG / NHGRI NIH HHS / United States
HG006493 / HG / NHGRI NIH HHS / United States
HG006542 / HG / NHGRI NIH HHS / United States
U54 HG006504 / HG / NHGRI NIH HHS / United States
UM1 HG006493 / HG / NHGRI NIH HHS / United States
R56 AR065483 / AR / NIAMS NIH HHS / United States
R56AR065483 / AR / NIAMS NIH HHS / United States
HG006504 / HG / NHGRI NIH HHS / United States