A G(+1)-]A TRANSVERSION AT THE 5'-SPLICE-SITE OF INTRON-69 OF THE DYSTROPHIN GENE CAUSING THE ABSENCE OF PERIPHERAL-NERVE DP116 AND SEVERE CLINICAL INVOLVEMENT IN A DMD PATIENT

被引:26
作者
COMI, GP
CIAFALONI, E
DESILVA, HAR
PRELLE, A
BARDONI, A
RIGOLETTO, C
ROBOTTI, M
BRESOLIN, N
MOGGIO, M
FORTUNATO, F
CISCATO, P
TURCONI, A
ROSE, AD
SCARLATO, G
机构
[1] DUKE UNIV,MED CTR,DIV NEUROL,DURHAM,NC 27710
[2] IST SCI E MEDEA,COMO,ITALY
关键词
D O I
10.1093/hmg/4.11.2171
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:2171 / 2174
页数:4
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