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Identification and characterization of six β‐crystallin gene mutations associated with congenital cataract in Chinese families

BACKGROUND: This study aims to identify the underlying genetic defects of β‐crystallin (CRYB) genes responsible for congenital cataracts in a group of Chinese families. METHODS: Detailed family history and clinical data of six Chinese families with autosomal dominant congenital cataracts were record...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Genomic Med
Egile Nagusiak: Yu, Yinhui, Qiao, Yue, Ye, Yang, Li, Jinyu, Yao, Ke
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2021
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC8104166/
https://ncbi.nlm.nih.gov/pubmed/33594837
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1617
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