Three new mutations in a gene causing Hermansky-Pudlak syndrome: Clinical correlations

Molecular Genetics and Metabolism

Volumn 64, Issue 2, 1998, Pages 99-107

  Shotelersuk, Vorasuk ^a   Hazelwood, Senator ^a,b   Larson, David ^a   Iwata, Fumino ^c   Kaiser Kupfer, Muriel I ^b   Kuehl, Ernest ^b   Bernardini, Isa ^a   Gahl, William A ^a  

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

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL EYE INSTITUTE   (United States)

Author keywords

Albinism; Autosomal recessive; Mutation analysis; Platelet dense bodies; Storage pool deficiency

Indexed keywords

DNA; LIPOFUSCIN; PIGMENT; PROTEIN; RNA;

ARTICLE; DNA SEQUENCE; ELECTRON MICROSCOPY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DUPLICATION; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; LIPOFUSCINOSIS; MALE; NORTHERN BLOTTING; OCULAR ALBINISM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING;

EID: 0031657556     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1998.2679     Document Type: Article

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