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Article

BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies.

Investigative ophthalmology & visual science - 1 May 2000

Schmitt-Bernard C F, Guittard C, Arnaud B, Demaille J, Argiles A, Claustres M, Tuffery-Giraud S

Abstract excerpt

PURPOSE: To screen the BIGH3 gene in three unrelated families with lattice corneal dystrophy (LCD), two of which disclosed a particular phenotype. METHODS: Genomic DNA was extracted from peripheral leukocytes of the affected patients and their family members. The entire coding sequence of the BIGH3 gene was screened for mutations by means of transcript analysis on total RNA isolated from peripheral leukocytes by...

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PMID: 10798644

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

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