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Article

Rapid genotyping for most common TGFBI mutations with real-time polymerase chain reaction.

Human genetics - 1 May 2005

Yoshida Shigeo, Yamaji Yoko, Yoshida Ayako, Noda Yoshihiro, Kumano Yuji, Ishibashi Tatsuro

Abstract excerpt

Recent studies of the corneal dystrophies (CDs) have shown that most cases of granular CD, Avellino CD, and lattice CD type I are caused by mutations in the human transforming growth factor beta-induced (TGFBI) gene. The aim of this study was to develop a rapid diagnostic assay to detect mutations in the TGFBI gene. Sixty-six patients from 64 families with TGFBI-associated CD were studied. A primer probe set was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15744520
DOI: 10.1007/s00439-005-1269-0

Genes

TGFBI

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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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