Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene

Nature Genetics

Volumn 30, Issue 3, 2002, Pages 321-324

  Suzuki, Tamio ^a   Li, Wei ^b   Zhang, Qing ^b   Karim, Amna ^b   Novak, Edward K ^b   Sviderskaya, Elena V ^c   Hill, Simon P ^c   Bennett, Dorothy C ^c   Levin, Alex V ^d   Nieuwenhuis, H Karel ^e   Fong, Chin To ^f   Castellan, Claudio ^g   Miterski, Bianca ^h   Swank, Richard T ^b   Spritz, Richard A ^a  

^a UNIVERSITY OF COLORADO   (United States)

^b ROSWELL PARK CANCER INSTITUTE   (United States)

^c ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^g Genetische Beratungsstelle   (Italy)

^h RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; PROTEIN HPS1; PROTEIN HPS4; UNCLASSIFIED DRUG;

ARTICLE; BIOGENESIS; BLEEDING; GENE LOCUS; GENE MUTATION; GENETIC TRANSFECTION; LUNG FIBROSIS; LYSOSOME; MELANOMA CELL; MELANOSOME; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PUERTO RICO;

AMINO ACID SEQUENCE; ANIMALS; BLOTTING, NORTHERN; FLUORESCENT ANTIBODY TECHNIQUE; HERMANSKI-PUDLAK SYNDROME; HOMOZYGOTE; HUMANS; MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; MUTATION; PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 18544384692     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng835     Document Type: Article

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