Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene

Inherited retinal dystrophies (IRDs) are clinically and genetically highly heterogeneous, making clinical diagnosis difficult. The advances in high-throughput sequencing (ie, panel, exome and genome sequencing) have proven highly effective on defining the molecular basis of these disorders by identi...

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Опубликовано в: :Eur J Hum Genet
Главные авторы: Skorczyk-Werner, Anna, Chiang, Wei-Chieh, Wawrocka, Anna, Wicher, Katarzyna, Jarmuż-Szymczak, Małgorzata, Kostrzewska-Poczekaj, Magdalena, Jamsheer, Aleksander, Płoski, Rafał, Rydzanicz, Małgorzata, Pojda-Wilczek, Dorota, Weisschuh, Nicole, Wissinger, Bernd, Kohl, Susanne, Lin, Jonathan H, Krawczyński, Maciej R
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2017
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5643965/
https://ncbi.nlm.nih.gov/pubmed/28812650
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.131
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