Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease

被引：13
|
作者：
Michel-Calemard, L. [1 ]
Dijoud, F. [2 ]
Till, M. [3 ]
Lambert, J. C. [4 ]
Vercherat, M. [5 ]
Tardy, V. [1 ,7 ]
Coubes, C. [6 ]
Morel, Y. [1 ,7 ]
机构：
[1] CBPE, Hosp Civils Lyon, Lab Endocrinol Mol & Maladies Rares, F-69677 Bron, France
[2] CBPE, Hosp Civils Lyon, Lab Anatomopathol, F-69677 Bron, France
[3] CBPE, Hosp Civils Lyon, Serv Genet, F-69677 Bron, France
[4] CHU Nice, Hop Archet 2, Serv Genet Med, Nice, France
[5] CH Chambery, Chambery, France
[6] CHU Montpellier, Hop Arnaud Villeneuve, Serv Genet Med, Montpellier, France
[7] Univ Lyon 1, Fac Med, F-69365 Lyon, France
来源：
CLINICAL GENETICS | 2009年 / 75卷 / 02期
关键词：
PRENATAL-DIAGNOSIS; ARPKD; PROTEIN; ENCODES;
D O I：
10.1111/j.1399-0004.2008.01106.x
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：203 / 206
页数：4
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