Identification of eight novel 5′-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1

被引：23

作者：

Eerola, I

McIntyre, B

Vikkula, M

机构：

[1] Christian Duve Inst Cellular Pathol, Lab Human Mol Genet, B-1200 Brussels, Belgium

[2] Univ Catholique Louvain, B-1200 Brussels, Belgium

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION | 2001年 / 1517卷 / 03期

基金：

芬兰科学院;

关键词：

KRIT1; CCM1; gene structure; alternative splicing; cerebral capillary malformation; vascular malformation;

D O I：

10.1016/S0167-4781(00)00303-1

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：

Truncating mutations in the CCM1 gene encoding KRIT1 were recently found in patients affected by inherited cerebral capillary malformations, lesions that cause a wide variety of neurologic problems. However. CCM1 mutations have not been identified in all the families linked to CCM1. Here we demonstrate that the CCMI gene contains right additional exons which may thus encompass the missing mutations. (C) 2001 Elsevier Science B.V. All rights reserved.

引用

页码：464 / 467

页数：4

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