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Article

Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy.

Molecular vision - 24 Sept 2007

Yellore Vivek S, Khan M Ali, Bourla Nirit, Rayner Sylvia A, Chen Michael C, Sonmez Baris, Momi Rominder S, Sampat Kapil M, Gorin Michael B, Aldave Anthony J

Abstract excerpt

PURPOSE: To identify the genetic basis of Schnyder crystalline corneal dystrophy (SCCD) through screening positional candidate genes and UBIAD1, in which mutations have been associated with SCCD, in affected families. METHODS: The coding region of each of the 16 positional candidate genes for which mutation screening has not been previously reported was screened with polymerase chain reaction (PCR) amplification...

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Source

Identifiers

PMID: 17960116

Genes

UBIAD1

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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