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A novel GJA8 mutation causing a recessive triangular cataract

PURPOSE: The aim of the study was to characterize the underlying mutation in a consanguineous family having cataracts. METHODS: Family D having congenital cataracts was treated at the University Eye Clinics at Giessen (Germany). Lens material from surgeries was collected, immediately frozen at –80 °...

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Библиографические подробности
Главные авторы: Schmidt, Werner, Klopp, Norman, Illig, Thomas, Graw, Jochen
Формат: Artigo
Язык:Inglês
Опубликовано: Molecular Vision 2008
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2375854/
https://ncbi.nlm.nih.gov/pubmed/18483562
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