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Article

An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.

Molecular vision - 30 Jun 2008

Liu Zhe, Wang Yi-qiang, Gong Qing-hua, Xie Li-xin

Abstract excerpt

PURPOSE: A genetic and clinical study of three unrelated Chinese pedigrees with a variable phenotype of lattice corneal dystrophy type I (LCD I). METHODS: The eyes of the patients were examined by slit lamp microscopy, and other clinical records were also collected. Genomic DNA was extracted from peripheral leukocytes of the affected patients and their family members. Exons of the transforming growth factor beta...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18615206
PMCID: PMC2443752

Genes

TGFBI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.PMID 18615206Read ↗

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