The RET C620S mutation causes multiple endocrine neoplaslia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes

被引:22
作者
Fernández, RM
Antiñolo, G
Eng, C
Borrego, S
机构
[1] Hosp Univ Virgen Del Rocio, Unidad Clin Genet & Reprod, Seville 41013, Spain
[2] Ohio State Univ, Clin Canc Genet Program, Ctr Comprehens Canc, Columbus, OH 43210 USA
[3] Ohio State Univ, Human Genet Program, Ctr Comprehens Canc, Columbus, OH 43210 USA
[4] Ohio State Univ, Div Human Genet, Columbus, OH 43210 USA
[5] Univ Cambridge, Canc Res UK Human Canc Genet Res Grp, Cambridge, England
关键词
D O I
10.1002/humu.10273
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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收藏
页码:412 / 415
页数:4
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