A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8

Pigment Cell and Melanoma Research

Volumn 25, Issue 5, 2012, Pages 584-591

  Cullinane, Andrew R ^a   Curry, James A ^a   Golas, Gretchen ^b   Pan, James ^a   Carmona Rivera, Carmelo ^a   Hess, Richard A ^a   White, James G ^c   Huizing, Marjan ^a   Gahl, William A ^a,b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

BLOC 1; BLOC1S3; Hermansky Pudlak Syndrome; HPS 8

Indexed keywords

MESSENGER RNA;

ARTICLE; BIOGENESIS OF LYSOSOME RELATED ORGANELLES COMPLEX 1 GENE; CELL MEMBRANE; CELL MIGRATION; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; NONSENSE MUTATION; OCULAR ALBINISM;

BASE SEQUENCE; CARRIER PROTEINS; CHILD; DNA MUTATIONAL ANALYSIS; GENETIC TESTING; HERMANSKI-PUDLAK SYNDROME; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; OXIDOREDUCTASES; RNA, MESSENGER;

EID: 84865555197     PISSN: 17551471     EISSN: 1755148X     Source Type: Journal    
DOI: 10.1111/j.1755-148X.2012.01029.x     Document Type: Article

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