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Article

The p.Arg86Gln change in GARP2 (glutamic acid-rich protein-2) is a common West African-related polymorphism.

Gene - 15 Feb 2013

Gibriel Abdullah A Y, Tate Rothwelle J, Yu Yongbin, Rawson-Lax Emma, Hammer Harold M, Tettey Justice N A, Pyne Nigel J, Converse Carolyn A

Abstract excerpt

BACKGROUND/AIMS: The aim of the present study is to probe the potential association between previously-reported GARP2 mutations and retinitis pigmentosa (RP) using Scottish RP patients and controls. METHODS: Exons 4, 5 and 8 in DNA from blood or buccal samples (130 autosomal recessive and simplex RP patients, 31 controls) were amplified and analysed for single-strand conformational polymorphism by capillary...

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PMID: 23201897
DOI: 10.1016/j.gene.2012.11.005

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