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Article

3'-UTR variations and G6PD deficiency.

Journal of human genetics - 1 Apr 2013

Amini Farahnaz, Ismail Endom

Abstract excerpt

The combination of two silent mutations, c.1311C>T in exon 11 and IVS11 T93C (glucose-6-phosphate dehydrogenase (G6PD) 1311T/93C), with unknown mechanism, have been reported in G6PD-deficient individuals in Asian populations including Malaysian aboriginal group, Negrito. Here, we report the screening of G6PD gene in 103 Negrito volunteers using denaturing high-performance liquid chromatography (dHPLC) and direct...

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PMID: 23389243
DOI: 10.1038/jhg.2012.155

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