Novel mutations causing CRB1 associated retinal degeneration in Czech patients and comparison of methods for mutation detection

被引：0

作者：

Kousal, Bohdan ^{[1
,2
,3
,4
]}

Dudakova, Lubica ^{[2
,3
,4
]}

Gaillyova, Renata ^{[5
]}

Diblik, Pavel ^{[1
,2
]}

Liskova, Petra ^{[1
,2
,3
]}

机构：

[1] Charles Univ Prague, Fac Med 1, Dept Ophthalmol, Prague, Czech Republic

[2] Gen Univ Hosp, Prague, Czech Republic

[3] Charles Univ Prague, Inst Inherited Metab Disorders, Lab Biol & Pathol Eye, Prague, Czech Republic

[4] Charles Univ Prague, Fac Med 1, Prague, Czech Republic

[5] Fac Hosp, Dept Genet, Brno, Czech Republic

来源：

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2015年 / 56卷 / 07期

关键词：

D O I：

暂无

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

1251

引用

页数：2

共 34 条

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[22] Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation
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[23] Simple PCR heteroduplex, SSCP mutation screening methods for the detection of novel catalase mutations in Hungarian patients with type 2 diabetes mellitus
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[24] FBN1 mutation screening of patients with Marfan syndrome and related disorders:: detection of 46 novel FBN1 mutations
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[25] TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations
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