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Article

Corneal dystrophies in Japan.

Journal of human genetics - 1 Jan 2001

Fujiki K, Nakayasu K, Kanai A

Abstract excerpt

Recent advances in molecular genetics have increased our understanding of the role of genes. Four autosomal dominant corneal dystrophies (CDs); granular CD (GCD), Avellino CD (ACD), lattice CD (LCD), and Reis-Bücklers CD (RBCD) were mapped to the long arm of chromosome 5 (5q31). These four diseases were shown, in a Caucasian series, to result from different missense mutations in the TGFBI (BIGH3, keratoepithelin)...

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Share to Corneal Dystrophies, Hereditary
Share to DNA Mutational Analysis
Share to Extracellular Matrix Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Molecular Biology

Share to Mutation, Missense

Share to Neoplasm Proteins

Share to Transforming Growth Factor beta

Source

Identifiers

PMID: 11501939
DOI: 10.1007/s100380170041

Genes

TGFBI
ACD

Variants

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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