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Article

[Autosomal dominant inherited corneal dystrophies associated with TGFBI mutation].

Nippon Ganka Gakkai zasshi - 1 Oct 2001

Mashima Y, Yamada M, Oguchi Y

Abstract excerpt

BACKGROUND: Mutations of the transforming growth factor beta-induced (TGFBI) gene whose product is called keratoepithelin (KE) have been identified in 4 major autosomal dominantly inherited corneal dystrophies. The purpose of this study was to identify the mutations in Japanese patients with these dystrophies, and to investigate the nature of corneal deposits. METHOD: Mutations of the TGFBI gene were screened by...

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Source

Identifiers

PMID: 11692612

Genes

TGFBI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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