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Article

Allelic homogeneity in Avellino corneal dystrophy due to a founder effect.

Journal of human genetics - 1 Jan 2007

Tsujikawa Kaoru, Tsujikawa Motokazu, Watanabe Hitoshi, Maeda Naoyuki, Inoue Yoshitsugu, Fujikado Takashi, Tano Yasuo

Abstract excerpt

Avellino corneal dystrophy (ACD) is a common corneal dystrophy that shows allelic homogeneity, R124H mutation in the transforming growth factor beta-induced (TGFBI) gene. There are distinct phenotypes of homozygous Avellino corneal dystrophy, termed types I and II. To investigate if the difference is caused by a modifier mutation, we sequenced the entire coding region of TGFBI of two types of ACDs. The sequences...

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Share to Alleles
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Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17096061
DOI: 10.1007/s10038-006-0083-4

Genes

ACD
TGFBI

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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