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Identification of a Missense Mutation in GJA8 Gene in an Iranian Family with Autosomal Dominant Congenital Cataract
PURPOSE: To identify the causative mutations of autosomal dominant (AD) congenital cataracts in a large Iranian family. METHODS: The complete and accurate family history and clinical information of participants were collected. A total of 51 family members, including 22 affected and 29 unaffected ind...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10481974/ https://www.ncbi.nlm.nih.gov/pubmed/37680296 http://dx.doi.org/10.4103/joco.joco_2_22 |