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Article

Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies.

Molecular vision - 15 May 2009

Yamada Naoyuki, Kawamoto Koji, Morishige Naoyuki, Chikama Tai-ichiro, Nishida Teruo, Nishioka Mitsuaki, Okayama Naoko, Hinoda Yuji

Abstract excerpt

PURPOSE: The R124H mutation of the keratoepithelin gene (TGFBI) causes Avellino corneal dystrophy whereas the N544S mutation of this same gene gives rise to lattice corneal dystrophy. We now report two cases with both R124H and N544S mutations of TGFBI. METHODS: Genomic DNA and cDNA were isolated from the proband and family members and were subjected to polymerase chain reaction-mediated amplification of exons...

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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: 19461933
PMCID: PMC2684562

Genes

TGFBI
AGT

Provenance

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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