Arg124Cys mutation of the TGFBI gene in a Chinese pedigree of Reis-Bücklers corneal dystrophy

Qiaona Yang,Yongwang Zhao,Liheng Guo,Naihong Yan,Xuyang Liu,Suping Cai

Arg124Cys mutation of the TGFBI gene in a Chinese pedigree of Reis-Bücklers corneal dystrophy

2011

Qiaona Yang
Yongwang Zhao
Liheng Guo
Naihong Yan
Xuyang Liu
Suping Cai

AIM To analyze mutations in transforming growth factor beta-induced (TGFBI) gene in a Chinese pedigree with Reis-Bucklers corneal dystrophy (RBCD, also known as GCD3).

Keywords:

TGFBI gene
Ophthalmology
Transforming growth factor
TGFBI
Reis–Bucklers corneal dystrophy
Mutation
Corneal dystrophy
Medicine
Genetics
Lattice corneal dystrophy
Point mutation
Exon
Surgery
Molecular genetics
Genotype-phenotype distinction

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