2 NEW MUTATIONS AFFECTING THE DONOR SPLICE-SITE OF COL3A1 IVS37 AND CAUSING SKIPPING OF EXON-37 IN PATIENTS WITH EHLERS-DANLOS-SYNDROME TYPE-IV

被引：8

作者：

RICHARDS, AJ ^{[1
]}

NARCISI, P ^{[1
]}

FERGUSON, C ^{[1
]}

COBBEN, JM ^{[1
]}

POPE, FM ^{[1
]}

机构：

[1] UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 10期

关键词：

D O I：

10.1093/hmg/3.10.1901

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

页码：1901 / 1902

页数：2

共 14 条

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[8] A T(+6) TO C(+6) MUTATION IN THE DONOR SPLICE SITE OF COL3A1-IVS7 CAUSES EXON SKIPPING AND RESULTS IN EHLERS-DANLOS SYNDROME TYPE-IV [J].

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[10] THE SUBSTITUTION OF GLYCINE-661 BY ARGININE IN TYPE-III COLLAGEN PRODUCES MUTANT MOLECULES WITH DIFFERENT THERMAL STABILITIES AND CAUSES EHLERS-DANLOS SYNDROME TYPE-IV [J].

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