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The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts
BACKGROUND: Mutations in more than 52 genes have been identified in isolated congenital cataracts, the majority of which are located in crystalline and connexin (gap junction) genes. An in-frame one amino acid deletion in the beta-crystalline gene CRYBA1 has been reported in several different Chines...
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| Publicado en: | BMC Med Genet |
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| Autores principales: | , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BioMed Central
2019
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6727356/ https://ncbi.nlm.nih.gov/pubmed/31488069 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0882-z |
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