Novel mutations in the HPS1 gene among Puerto Rican patients

Clinical Genetics

Volumn 79, Issue 6, 2011, Pages 561-567

  Carmona Rivera, C ^a   Hess, R A ^a   O'Brien, K ^b   Golas, G ^b   Tsilou, E ^c   White, J G ^d   Gahl, W A ^a,b   Huizing, M ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL EYE INSTITUTE   (United States)

^d UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

Albinism; Bleeding diathesis; BLOC 3; Platelet dense body; Pulmonary fibrosis

Indexed keywords

AMINO ACID; GENE PRODUCT; MESSENGER RNA;

ADULT; ARTICLE; BIOGENESIS; CONTROLLED STUDY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DUPLICATION; GENE IDENTIFICATION; GENE MUTATION; HERMANSKY PUDLAK SYNDROME TYPE 1 GENE; HUMAN; HUMAN CELL; LYSOSOME; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; PRIORITY JOURNAL; PUERTO RICO; STOP CODON;

ABNORMALITIES, MULTIPLE; ADULT; ALTERNATIVE SPLICING; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; HERMANSKI-PUDLAK SYNDROME; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PUERTO RICO; YOUNG ADULT;

EID: 79955581911     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01491.x     Document Type: Article

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