Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

Nature Genetics

Volumn 35, Issue 1, 2003, Pages 84-89

  Li, Wei ^a   Zhang, Qing ^a   Oiso, Naoki ^b   Novak, Edward K ^a   Gautam, Rashi ^a   O'Brien, Edward P ^a   Tinsley, Caroline L ^a   Blake, Derek J ^c   Spritz, Richard A ^c   Copeland, Neal G ^b   Jenkins, Nancy A ^d   Amato, Dominick ^e   Roe, Bruce A ^f   Starcevic, Marta ^g   Dell'Angelica, Esteban C ^g   Elliott, Rosemary W ^a   Mishra, Vishnu ^h   Kingsmore, Stephen F ⁱ   Paylor, Richard E ^j   Swank, Richard T ^a  

^a ROSWELL PARK CANCER INSTITUTE   (United States)

^b UNIVERSITY OF COLORADO   (United States)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d NATIONAL CANCER INSTITUTE   (United States)

^e MOUNT SINAI HOSPITAL   (Canada)

^f UNIVERSITY OF OKLAHOMA   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

ⁱ Molecular Staging Inc   (United States)

^j BAYLOR COLLEGE OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA DYSTROBREVIN; BETA DYSTROBREVIN; BIOGENESIS OF LYSOSOME RELATED ORGANELLES COMPLEX 1; DYSBINDIN; DYSTROBREVIN; MUTANT PROTEIN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BIOGENESIS; CELL ORGANELLE; COMPLEX FORMATION; CONTROLLED STUDY; GENE DELETION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; MEMBRANE VESICLE; MOLECULAR INTERACTION; MOUSE; NONHUMAN; OCULAR ALBINISM; PRIORITY JOURNAL; PROTEIN STABILITY;

ANIMALS; CARRIER PROTEINS; COS CELLS; CYTOSKELETAL PROTEINS; DYSTROPHIN-ASSOCIATED PROTEINS; FEMALE; HERMANSKI-PUDLAK SYNDROME; HUMANS; LECTINS; MACROMOLECULAR SUBSTANCES; MALE; MELANOSOMES; MEMBRANE PROTEINS; MICE; MICE, INBRED C3H; MICE, INBRED C57BL; MICE, INBRED DBA; MICE, TRANSGENIC; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PHOSPHOPROTEINS; PROTEIN BINDING;

ANIMALIA;

EID: 0041854263     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1229     Document Type: Article

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