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Article

Genotypic analysis of X-linked retinoschisis in Western Australia.

Advances in experimental medicine and biology - 1 Jan 2010

Lamey Tina, Laurin Sarina, Chelva Enid, De Roach John

Abstract excerpt

X-linked Retinoschisis is a leading cause of juvenile macular degeneration. Four Western Australian families affected by X-Linked Retinoschisis were analysed using DNA and clinical information from the Australian Inherited Retinal Disease (IRD) Register and DNA Bank. By direct sequencing of the RS1 gene, three genetic variants were identified; 52+1G > T, 289T > G and 416delA. 289T > G has not been previously...

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Identifiers

PMID: 20238027
DOI: 10.1007/978-1-4419-1399-9_32

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ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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