A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome

被引:22
作者
Wheway, JM
Yau, SC
Nihalani, V
Ellis, D
Irving, M
Splitt, M
Roberts, RG
机构
[1] Guys Kings & St Thomas Sch Med, Div Med & Mol Genet, London, England
[2] Guys Hosp, SE Thames Reg Genet Ctr, Guys & St Thomas NHS Trust, London SE1 9RT, England
关键词
D O I
10.1136/jmg.40.2.127
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:127 / 131
页数:5
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