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[Analyses of TGFBI gene mutation spectrum in four Chinese families with corneal dystrophy].

Zhonghua yi xue za zhi - 13 Jan 2015

Zhang Yanling, Ying Jinglu, Zhou Weiping, Zhu Leru, Cai Jianqiu

Abstract excerpt

OBJECTIVE: To identify the genetic mutation of TGFBI gene in four Chinese families with corneal dystrophy. The pedigrees were Reis-Bücklers corneal dystrophy (RBCD), Avellino corneal dystrophy (ACD), lattice corneal dystrophy type I(LCDI) and lattice corneal dystrophy type I/IIIA (LCDI/IIIA) (n = 1 each). METHODS: Genomic DNA was extracted from leukocytes from 22 patients, 22 phenotypic normal family members and...

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Source

Identifiers

PMID: 25876897

Genes

TGFBI
ACD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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