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Article

Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients.

Investigative ophthalmology & visual science - 1 Oct 2007

Alavi Afagh, Elahi Elahe, Tehrani Mehdi Hosseini, Amoli Fahimeh Asadi, Javadi Mohammad-Ali, Rafati Nasrin, Chiani Mohsen, Banihosseini Setareh Sadat, Bayat Behnaz, Kalhor Reza, Amini Seyed S H

Abstract excerpt

PURPOSE: To perform a mutation screening of TACSTD2 in 13 Iranian Gelatinous Drop-like Corneal Dystrophy (GDLD) pedigrees. To assess genotype-phenotype correlations. To determine intragenic SNP haplotypes associated with the mutations, so as to gain information on their origin. METHODS: The codin...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17898270
DOI: 10.1167/iovs.07-0264

Genes

TACSTD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17898270-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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