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Article

Identification of a novel MYOC mutation, p.(Trp373), in a family with open angle glaucoma.

Gene - 25 Jul 2014

Crawford April, Souzeau Emmanuelle, Agar Ashish, Ridge Bronwyn, Dubowsky Andrew, Burdon Kathryn P, Craig Jamie E

Abstract excerpt

MYOC gene variants are associated with autosomal dominant primary open angle glaucoma (POAG). In this study, we describe a previously unreported MYOC variant segregating with a POAG phenotype in an Australian family. Two individuals affected with POAG and three unaffected individuals from the same family were recruited through the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG). Direct...

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Source

Identifiers

PMID: 24768183
DOI: 10.1016/j.gene.2014.04.033

Genes

MYOC

Variants

Provenance

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