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[TGFBI gene mutations in the Ukrainian patients with inherited corneal stromal dystrophies].

Genetika - 1 Oct 2008

Pampukha V N, Kravchenko S A, Tereshchenko F, Drozhzhina G I, Livshits L A

Abstract excerpt

Mutations Arg124Cys, Thr538Arg, Arg555Thr, Arg555Gln, Leu558Pro, and His626Arg in TGFBI gene were analyzed by polymerase chain reaction and restriction in 84 patients with various forms of corneal stromal dystrophies from 49 unrelated families and 29 clinically healthy relatives of these patients. A new mutation in TGFBI gene, Leu558Pro, was identified in the patients with atypical lattice dystrophy. The...

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Share to Amino Acid Substitution
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

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Source

Identifiers

PMID: 19062536

Genes

TGFBI

Provenance

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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