A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

American Journal of Medicine

Volumn 108, Issue 5, 2000, Pages 423-427

  Shotelersuk, Vorasuk ^a   Dell'Angelica, Esteban C ^a   Hartnell, Lisa ^a   Bonifacino, Juan S ^a   Gahl, William A ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN;

ADULT; ARTICLE; CASE REPORT; CLINICAL ARTICLE; ELECTRON MICROSCOPY; GENE MUTATION; HUMAN; HUMAN CELL; MALE; NYSTAGMUS; OCULAR ALBINISM; OTITIS MEDIA; PRIORITY JOURNAL; THROMBOCYTE; UPPER RESPIRATORY TRACT INFECTION;

ADAPTOR PROTEIN COMPLEX BETA SUBUNITS; ADULT; ALBINISM, OCULOCUTANEOUS; CHEDIAK-HIGASHI SYNDROME; DIAGNOSIS, DIFFERENTIAL; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION;

EID: 0034177476     PISSN: 00029343     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9343(99)00436-2     Document Type: Article

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