X-linked retinoschisis in a female with a heterozygous RS1 missense mutation

被引：19

作者：

Saldana, Manuel

Thomson, Jenny

Monk, Elizabeth

Trump, Dorothy

Long, Vernon

Sheridan, Eamonn

机构：

[1] St James Univ Hosp, Dept Clin Genet, Leeds LS9 7TF, W Yorkshire, England

[2] Gen Infirm, Dept Ophthalmol, Leeds LS1 3EX, W Yorkshire, England

[3] Addenbrookes Hosp, Genet Mol Lab, Cambridge, England

[4] St Marys Hosp, Acad Unit Med Genet, Sch Med, Manchester M13 0JH, Lancs, England

[5] St Marys Hosp, Ctr Mol Med, Fac Med Hlth Sci, Manchester M13 0JH, Lancs, England

[6] St Marys Hosp, Reg Genet Serv, Manchester M13 0JH, Lancs, England

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2007年 / 143A卷 / 06期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1002/ajmg.a.31568

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：608 / 609

页数：2

共 11 条

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