Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family

被引：5
|
作者：
Feldhaus, Britta [1 ]
Kohl, Susanne [2 ]
Hoertnagel, Konstanze [3 ,4 ]
Weisschuh, Nicole [2 ]
Zobor, Ditta [1 ]
机构：
[1] Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Tubingen, Germany
[2] Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Mol Genet Lab, Tubingen, Germany
[3] Praxis Humangenet Tubingen, Tubingen, Germany
[4] CeGaT GmbH, Tubingen, Germany
来源：
OPHTHALMIC GENETICS | 2018年 / 39卷 / 01期
关键词：
D O I：
10.1080/13816810.2017.1318925
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：131 / 134
页数：4
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