A POINT MUTATION G-]A IN EXON-12 OF THE PORPHOBILINOGEN DEAMINASE GENE RESULTS IN EXON SKIPPING AND IS RESPONSIBLE FOR ACUTE INTERMITTENT PORPHYRIA

被引:109
作者
GRANDCHAMP, B
PICAT, C
DEROOIJ, F
BEAUMONT, C
WILSON, P
DEYBACH, JC
NORDMANN, Y
机构
[1] HOP LOUIS MOURIER,BIOCHIM LAB,F-92701 COLOMBES,FRANCE
[2] ERASMUS UNIV,DEPT INTERNAL MED,3000 DR ROTTERDAM,NETHERLANDS
关键词
D O I
10.1093/nar/17.16.6637
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:6637 / 6649
页数:13
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