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

页码：131 / 134

页数：4

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