The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts

Abstract 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 differen...

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Egile Nagusiak: Dan Li (Egilea), Qinghe Jing (Egilea), Yongxiang Jiang (Egilea)
Formatua: Liburua
Argitaratua: BMC, 2019-09-01T00:00:00Z.
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