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Article

BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.

Eye (London, England) - 1 Jul 2004

El-Ashry M F, Abd El-Aziz M M, Ficker L A, Hardcastle A J, Bhattacharya S S, Ebenezer N D

Abstract excerpt

AIMS: To report a Bangladeshi family displaying intrafamilial phenotypic heterogeneity of lattice corneal dystrophy type I (LCDI) and to identify the causative mutation. METHODS: Molecular genetic analysis was performed on DNA extracted from all members of the family. Exons of BIGH3 gene were amplified by polymerase chain reaction. Gene mutation and polymorphisms were identified by heteroduplex and sequence...

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Identifiers

PMID: 15017378
DOI: 10.1038/sj.eye.6701313

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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