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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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Detalles Bibliográficos
Autores principales: Schmidt, Werner, Klopp, Norman, Illig, Thomas, Graw, Jochen
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375854/
https://www.ncbi.nlm.nih.gov/pubmed/18483562