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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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Li, Dan, Jing, Qinghe, Jiang, Yongxiang
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Acesso em linha: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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