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Article

Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families.

Ophthalmic research - 1 Jan 2008

Liskova Petra, Klintworth Gordon K, Bowling Brandy L, Filipec Martin, Jirsova Katerina, Tuft Stephen J, Bhattacharya Shomi S, Hardcastle Alison J, Ebenezer Neil D

Abstract excerpt

AIMS: To evaluate mutations in the transforming-growth-factor-beta-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies. METHODS: The coding sequence of the TGFBI gene was analysed in 22 affected Czech individuals from 7 apparently unrelated families. Comparison of phenotype to genotype was performed. RESULTS: A H626P mutation, previously only described in a family with a...

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Source

Identifiers

PMID: 18259096
DOI: 10.1159/000115325

Genes

TGFBI

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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