Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1

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Bibliographic Details
Published in:Human mutation 1998, Vol.11 (S1), p.S47-S49
Main Authors: Horiuchi, Takahiko, Hatta, Nobuaki, Watanabe, Ichiro, Kobayashi, Yuzuru, Wallace, Margaret R., Shirakata, Yuji, Ohtsuka, Hisashi, Fujita, Shigeru
Format: Article
Language:English
Subjects:
Amino Acid Substitution
Arginine - genetics
Cell Line, Transformed
Codon
DNA - chemistry
DNA - genetics
DNA Mutational Analysis
Humans
Mutation
Neurofibromatosis 1 - genetics
Neurofibromin 1
Polymorphism, Single-Stranded Conformational
Proteins - genetics
Sequence Deletion
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ISSN:1059-7794
1098-1004
DOI:10.1002/humu.1380110116