Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe
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- 作者：Aneta Ścieżyńskaa ; Dominika Oziębłob ; Anna M. Ambroziakc ; d ; Magdalena Korwinc ; Kamil Szulborskic ; Maciej Krawczyńskie ; f ; Piotr Stawińskib ; Jerzy Szaflikc ; Jacek P. Szaflikc ; Rafał Płoskig ; rploski@wp.pl" class="auth_mail" title="E-mail the corresponding author ; Monika Ołdaka ; b ; m.oldak@ifps.org.pl" class="auth_mail" title="E-mail the corresponding author
- 关键词：Stargardt disease ; Cone-rod dystrophy ; ABCA4 ; Next-generation sequencing ; Complex allele ; Mutation
- 刊名：Experimental Eye Research
- 出版年：2016
- 出版时间：April 2016
- 年：2016
- 卷：145
- 期：Complete
- 页码：93-99
- 全文大小：503 K
文摘
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We perform a large scale ABCA4 genotyping in patients from Central Europe.
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We screen ABCA4 with the most advanced DNA sequencing technology.
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The relevance of genetic variants is defined based on population evidence.
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We identify several novel ABCA4 gene mutations and a novel complex allele.
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The pathogenic status of several ABCA4 variants is disproved.