A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient

Journal of Human Genetics

Volumn 45, Issue 2, 2000, Pages 84-85

  Park, Kyoung Chan ^a   Choi, Hyun Ok ^a   Park, Kee Ho ^a   Kim, Kyu Han ^a   Eun, Hee Chul ^a  

^a Seoul National University College of Medicine   (South Korea)

Author keywords

Hot spot; Mutation; Neurofibromatosis

Indexed keywords

DNA;

ARTICLE; CODON; GENE; GENE MUTATION; HUMAN; KOREA; MAJOR CLINICAL STUDY; NEUROFIBROMATOSIS; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0343049186     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050016     Document Type: Article

References (10)

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3. Estivill X, Lazaro C, Casals T, Ravella A (1991) Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1. Hum Genet 88:185-188
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