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Article

A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families.

The British journal of ophthalmology - 1 Jul 2003

El-Ashry M F, Abd El-Aziz M M, Larkin D F P, Clarke B, Cree I A, Hardcastle A J, Bhattacharya S S, Ebenezer N D

Abstract excerpt

AIMS: To establish a clinical, histopathological, and genetic diagnosis in two unrelated British families with Avellino corneal dystrophy (ACD). METHODS: Genomic DNA was extracted from peripheral blood leucocytes of all members participating in the study. Exons 4 and 12 of the human transforming growth factor beta induced (BIGH3) gene were amplified by polymerase chain reaction. The mutation and polymorphism were...

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Identifiers

PMID: 12812879
DOI: 10.1136/bjo.87.7.839
PMCID: PMC1771747

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ACD

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Source receipt: pubmed, retrieved 7 Sept 2026.

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