Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)

New England Journal of Medicine

Volumn 338, Issue 18, 1998, Pages 1258-1264

  Gahl, William A ^a   Brantly, Mark ^b   Kaiser Kupfer, Muriel I ^c   Iwata, Fumino ^c   Hazelwood, Senator ^a,d   Shotelersuk, Vorasuk ^a   Duffy, Lynn F ^e   Kuehl, Ernest M ^c   Troendle, James ^a   Bernardini, Isa ^a  

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

^b NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^c NATIONAL EYE INSTITUTE   (United States)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^e Gastroenterol Assoc of N Virginia   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADOLESCENT; ADULT; ARTICLE; BLEEDING; CHILD; CLINICAL ARTICLE; COLITIS; CONTROLLED STUDY; EXON; FANCONI ANEMIA; FEMALE; GENE DUPLICATION; GENETIC DISORDER; HUMAN; LUNG FIBROSIS; MALE; OCULOCUTANEOUS ALBINISM; PRIORITY JOURNAL; PUERTO RICO; UNITED STATES;

ADOLESCENT; ADULT; ALBINISM, OCULOCUTANEOUS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 10; FEMALE; HEMORRHAGE; HUMANS; INFLAMMATORY BOWEL DISEASES; KIDNEY; MALE; MIDDLE AGED; MUTATION; NYSTAGMUS, PATHOLOGIC; PIGMENTATION; PUERTO RICO; PULMONARY DIFFUSING CAPACITY; RESPIRATORY MECHANICS; UNITED STATES; VISUAL ACUITY;

EID: 19244382144     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199804303381803     Document Type: Article

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