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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作者
Horiuchi, T [1 ]
Hatta, N
Watanabe, I
Kobayashi, Y
Wallace, MR
Shirakata, Y
Ohtsuka, H
Fujita, S
机构
[1] Kyushu Univ, Fac Med, Dept Internal Med 1, Fukuoka 812, Japan
[2] Ehime Univ, Sch Med, Dept Internal Med 1, Shigenobu, Ehime 79102, Japan
[3] Ehime Univ, Sch Med, Dept Dermatol, Shigenobu, Ehime 79102, Japan
[4] Univ Florida, Hlth Sci Ctr, Dept Pediat, Div Genet, Gainesville, FL 32610 USA
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Q3 [遗传学];
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071007 ; 090102 ;
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页码:S47 / S49
页数:3
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