Identification of two novel mutations (1448dela and q682x) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1

Takahiko Horiuchi, Nobuaki Hatta, Ichiro Watanabe, Yuzuru Kobayashi, Margaret R. Wallace, Yuji Shirakata, Hisashi Ohtsuka, Shigeru Fujita

Research output: Contribution to journalArticle

Original languageEnglish
JournalHuman mutation
Volume11
Issue numberSUPPL 1
DOIs
Publication statusPublished - Dec 1 1998

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DNA Mutational Analysis
Neurofibromin 1
Single-Stranded Conformational Polymorphism
Transformed Cell Line
Neurofibromatosis 1
Nonsense Codon
Sequence Deletion
Amino Acid Substitution
Codon
Arginine
Mutation
DNA
Genes
Proteins

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Identification of two novel mutations (1448dela and q682x) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1. / Horiuchi, Takahiko; Hatta, Nobuaki; Watanabe, Ichiro; Kobayashi, Yuzuru; Wallace, Margaret R.; Shirakata, Yuji; Ohtsuka, Hisashi; Fujita, Shigeru.

In: Human mutation, Vol. 11, No. SUPPL 1, 01.12.1998.

Research output: Contribution to journalArticle

Horiuchi, Takahiko ; Hatta, Nobuaki ; Watanabe, Ichiro ; Kobayashi, Yuzuru ; Wallace, Margaret R. ; Shirakata, Yuji ; Ohtsuka, Hisashi ; Fujita, Shigeru. / Identification of two novel mutations (1448dela and q682x) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1. In: Human mutation. 1998 ; Vol. 11, No. SUPPL 1.
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