Mutation analysis of the TGFBI gene in pedigrees of lattice corneal dystrophy in Eastern China.

Tiankun Li Shuangqing Wu Yajing WenXin ZhangQi Dai

Published in: Ophthalmic genetics (2022)

WES is efficient for the genomic testing of LCD and genetic relationship identification in different families with the same mutated gene. We identified a compound heterozygous mutation (p.P501T and p.N622 H) and two mutations (p.T621P and p.L565 H) uncommon in China.

Keyphrases

copy number
genome wide
early onset
genome wide identification
south africa
dna methylation
optical coherence tomography
gene expression