Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

被引：183

作者：

Kinoshita, A ^{[1
]}

Saito, T

Tomita, H

Makita, Y

Yoshida, K

Ghadami, M

Yamada, K

Kondo, S

Ikegawa, S

Nishimura, G

Fukushima, Y

Nakagomi, T

Saito, H

Sugimoto, T

Kamegaya, M

Hisa, K

Murray, JC

Taniguchi, N

Niikawa, N

Yoshiura, K

机构：

[1] Nagasaki Univ, Sch Med, Dept Human Genet, Nagasaki 852, Japan

[2] Osaka Univ, Fac Med, Dept Biochem, Osaka, Japan

[3] Asahikawa Med Coll, Dept Pediat, Asahikawa, Hokkaido 078, Japan

[4] Asahikawa Med Coll, Dept Publ Hlth, Asahikawa, Hokkaido 078, Japan

[5] Shinshu Univ, Sch Med, Dept Internal Med 3, Nagano, Japan

[6] Shinshu Univ, Sch Med, Dept Med Genet, Nagano, Japan

[7] Shinshu Univ, Sch Med, Div Clin & Mol Genet, Nagano, Japan

[8] Univ Tokyo, Inst Med Sci, Ctr Human Genome, Minato Ku, Tokyo, Japan

[9] Dokkyo Univ, Sch Med, Dept Radiol, Mibu, Tochigi, Japan

[10] Asahigawa Ryoikuen Childrens Hosp Physically Disa, Okayama, Japan

[11] Akita Univ, Sch Med, Dept Orthoped Surg, Akita 010, Japan

[12] Kansal Univ Otokoyama Hosp, Dept Pediat, Kyoto, Japan

[13] Chiba Childrens Hosp, Div Orthoped Surg, Chiba, Japan

[14] Natl Chushin Matsumoto Hosp, Dept Orthoped Surg, Nagano, Japan

[15] Univ Iowa, Dept Pediat & Biol Sci, Iowa City, IA USA

来源：

NATURE GENETICS | 2000年 / 26卷 / 01期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/79128

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：19 / 20

页数：2

共 13 条

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