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Article

Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA.

American journal of medical genetics - 15 Nov 2002

Tsujikawa Kaoru, Tsujikawa Motokazu, Yamamoto Shuji, Fujikado Takashi, Tano Yasuo

Abstract excerpt

Lattice corneal dystrophies (LCDs) are caused by mutations of the transforming growth factor beta-induced gene (TGFBI, formerly betaig-h3). LCD type IIIA (LCDIIIA) has been reported mostly from Japan. In this study, we demonstrate allelic homogeneity for Japanese patients with LCDIIIA, using intragenic polymorphic markers. When exon 11 of TGFBI was analyzed, all 18 patients examined were found to be heterozygous...

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Source

Identifiers

PMID: 12400061
DOI: 10.1002/ajmg.10709

Genes

TGFBI

Variants

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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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