Hermansky-Pudlak syndrome type 1 in patients of Indian descent

Molecular Genetics and Metabolism

Volumn 97, Issue 3, 2009, Pages 227-233

  Vincent, Lisa M ^a   Adams, David ^a   Hess, Richard A ^a   Ziegler, Shira G ^a   Tsilou, Ekaterini ^b   Golas, Gretchen ^a,c   O'Brien, Kevin J ^a,c   White, James G ^d   Huizing, Marjan ^a   Gahl, William A ^a,c  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL EYE INSTITUTE   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

Albinism; Bleeding diathesis; Indian descent; Lysosome related organelle; Splice site mutation

Indexed keywords

HERMANSKY PUDLAK SYNDROME 1 PROTEIN; MESSENGER RNA; PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; BLEEDING TENDENCY; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; ETHNIC GROUP; EXON; FEMALE; GENE MUTATION; HAIR COLOR; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPOPIGMENTATION; INDIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; NYSTAGMUS; OCULAR ALBINISM; PRIORITY JOURNAL; SCHOOL CHILD; SKIN PIGMENTATION; VISUAL ACUITY;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BLOOD PLATELETS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HERMANSKI-PUDLAK SYNDROME; HUMANS; INDIA; INFANT; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA;

EID: 67349178347     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.03.011     Document Type: Article

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