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. 2001 Nov;29(3):261-2.
doi: 10.1038/ng759.

Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility

A T Rovio  1 , D R Marchington, S Donat, H C Schuppe, J Abel, E Fritsche, D J Elliott, P Laippala, A L Ahola, D McNay, R F Harrison, B Hughes, T Barrett, D M Bailey, D Mehmet, A M Jequier, T B Hargreave, S H Kao, J M Cummins, D E Barton, H J Cooke, Y H Wei, L Wichmann, J Poulton, H T Jacobs
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Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility

A T Rovio et al. Nat Genet. 2001 Nov.

Abstract

Human mitochondrial DNA polymerase, encoded by POLG, contains a polyglutamine tract encoded by a CAG microsatellite repeat. Analysis of POLG genotypes in different populations identified an association between absence of the common, ten-repeat allele and male infertility typified by a range of sperm quality defects but excluding azoospermia.

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