The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation

PURPOSE: The aim of this study was the genetic, cellular, and physiological characterization of a connexin50 (CX50) variant identified in a child with congenital cataracts. METHODS: Lens material from surgery was collected and used for cDNA production. Genomic DNA was prepared from blood obtained fr...

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Main Authors: Graw, Jochen, Schmidt, Werner, Minogue, Peter J., Rodriguez, Jessica, Tong, Jun-Jie, Klopp, Norman, Illig, Thomas, Ebihara, Lisa, Berthoud, Viviana M., Beyer, Eric C.
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2009
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2743802/
https://ncbi.nlm.nih.gov/pubmed/19756179
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