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Nat Genet. 2001 Nov;29(3):261-2.

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

Author information

1
Ancobio Ltd, Glasgow, Scotland.

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.

PMID:
11687794
DOI:
10.1038/ng759
[Indexed for MEDLINE]

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