Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

Nature Genetics

Volumn 28, Issue 4, 2001, Pages 376-380

  Anikster, Yair ^a   Huizing, Marjan ^a   White, James ^b   Shevchenko, Yuriy O ^c   Fitzpatrick, Diana L ^a   Touchman, Jeffrey W ^c   Compton, John G ^d   Bale, Sherri J ^d   Swank, Richard T ^e   Gahl, William A ^a   Toro, Jorge R ^d,f  

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

^b UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^e ROSWELL PARK CANCER INSTITUTE   (United States)

^f NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; GENE DELETION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HUMAN; OCULAR ALBINISM; PATHOGENESIS; PEDIGREE; PRIORITY JOURNAL;

ALLELES; AMINO ACID SEQUENCE; BLOTTING, NORTHERN; CARRIER PROTEINS; CHROMOSOMES, HUMAN, PAIR 3; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HERMANSKI-PUDLAK SYNDROME; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; ORGAN SPECIFICITY; PEDIGREE; PHENOTYPE; PHYSICAL CHROMOSOME MAPPING; PUERTO RICO; SEQUENCE DELETION;

EID: 0034928726     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng576     Document Type: Article

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