A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

被引：42

作者：

Yzer, S

van den Born, LI

Schuil, J

Kroes, HY

van Genderen, MM

Boonstra, FN

van den Helm, B

Brunner, HG

Koenekoop, RK

Cremers, FPM

机构：

[1] Univ Med Ctr Nijmegen, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

[2] Rotterdam Eye Hosp, Rotterdam, Netherlands

[3] Inst Visually Handicapped Bartimeus, Zeist, Netherlands

[4] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

[5] McGill Univ, Montreal Childrens Hosp, Res Inst, McGill Ocular Genet Lab, Montreal, PQ H3H 1P3, Canada

来源：

JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 09期

关键词：

D O I：

10.1136/jmg.40.9.709

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：709 / 713

页数：5

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