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Article

TGFBI gene mutation in a Chinese pedigree with Reis-Bücklers corneal dystrophy.

Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) - 1 Jan 2012

Liang Qingfeng, Sun Xuguang, Jin Xiuying

Abstract excerpt

PURPOSE: To characterize the molecular defects in the TGFBI gene in a Chinese family with Reis-Bücklers corneal dystrophy (RBCD), and to study the relationship between the gene mutations and the clinical manifestations. METHODS: Four generations of this family with RBCD were enrolled in the study. In addition to ophthalmic and histopathological examinations, polymerase chain reaction (PCR) amplification and...

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Identifiers

PMID: 21899585
DOI: 10.1111/j.1475-1313.2011.00867.x

Genes

TGFBI

Variants

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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