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

doi:10.1002/humu.1380110116

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

Internal Medicine

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	S47-S49
Journal	Human mutation
Volume	11
Issue number	SUPPL 1
DOIs	https://doi.org/10.1002/humu.1380110116
Publication status	Published - 1998

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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10.1002/humu.1380110116

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

author = "Takahiko Horiuchi and Nobuaki Hatta and Ichiro Watanabe and Yuzuru Kobayashi and Wallace, {Margaret R.} and Yuji Shirakata and Hisashi Ohtsuka and Shigeru Fujita",

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doi = "10.1002/humu.1380110116",

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AU - Hatta, Nobuaki

AU - Watanabe, Ichiro

AU - Kobayashi, Yuzuru

AU - Wallace, Margaret R.

AU - Shirakata, Yuji

AU - Ohtsuka, Hisashi

AU - Fujita, Shigeru

PY - 1998

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M3 - Article

C2 - 9452037

AN - SCOPUS:21544442888

SN - 1059-7794

VL - 11

SP - S47-S49

JO - Human mutation

JF - Human mutation

IS - SUPPL 1

ER -

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

All Science Journal Classification (ASJC) codes

Access to Document

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