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Article

Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies.

Journal of Zhejiang University. Science. B - 1 Sept 2011

Huo Ya-nan, Yao Yu-feng, Yu Ping

Abstract excerpt

OBJECTIVE: To investigate gene mutations associated with three different types of corneal dystrophies (CDs), and to establish a phenotype-genotype correlation. METHODS: Two patients with Avellino corneal dystrophy (ACD), four patients with lattice corneal dystrophy type I (LCD I) from one family, and three patients with macular corneal dystrophy type I (MCD I) were subjected to both clinical and genetic...

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China
Corneal Dystrophies, Hereditary
DNA Mutational Analysis
Heterozygote
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sulfotransferases

Transforming Growth Factor beta1

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Open in PubMed Open full text

Identifiers

PMID: 21887843
DOI: 10.1631/jzus.B1100011
PMCID: PMC3167901

Genes

TGFBI
ACD
CHST6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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