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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2009
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2743802/ https://www.ncbi.nlm.nih.gov/pubmed/19756179 |