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Article

Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy.

Ophthalmology - 1 Nov 2007

Zhao Xinping C, Nakamura Hisashi, Subramanyam Sumitra, Stock Lee E, Gillette Thomas E, Yoshikawa Shunichi, Ma Xiaoping, Yee Richard W

Abstract excerpt

PURPOSE: Bowman's layer corneal dystrophies (CDBs) include 2 distinct types: CDB1, or Reis-Bücklers (RBCD), and CDB2, or Thiel-Behnke (TBCD). We studied the genetic basis of 2 cases of apparent spontaneous CDB mutations and attempted to determine if these are sporadic and inheritable mutations. DESIGN: Retrospective molecular genetic study and case report. PARTICIPANTS: Twelve patients were recruited from 2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17980739
DOI: 10.1016/j.ophtha.2007.07.029

Genes

TGFBI
TBCD

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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