@article{925f31628acb4573b6f7dc0dadd0c982,
title = "Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility",
abstract = "Human mitochondrial DNA polymerase, encoded by POLG, contains a polyglutamine tract encoded by a CAG microsatellite repeat1,2. Analysis of POLG genotypes in different populations identified an association between absence of the common, tenrepeat allele and male infertility typified by a range of sperm quality defects but excluding azoospermia.",
author = "Rovio, {Anja T.} and Marchington, {David R.} and Susanne Donat and Schuppe, {Hans Christian} and Josef Abel and Ellen Fritsche and Elliott, {David J.} and Pekka Laippala and Ahola, {Arja L.} and David McNay and Harrison, {Robert F.} and Barbara Hughes and Thomas Barrett and Bailey, {David M.D.} and Denise Mehmet and Jequier, {Anne M.} and Hargreave, {Tim B.} and Kao, {Shu Huei} and Cummins, {James M.} and Barton, {David E.} and Cooke, {Howard J.} and Wei, {Yau Huei} and Lars Wichmann and Joanna Poulton and Jacobs, {Howard T.}",
note = "Funding Information: We are grateful to J.N. Spelbrink, J. Montoya, J.A. Enriquez and M. Lopez-Perez for useful discussions, to A. Butler for technical assistance, to D.H. Barlow and L. Maciocia for provision of sperm samples and to D.W. Phillips for control DNAs. Our research is supported by the Tampere University Hospital Medical Research Fund, the Academy of Finland, the Wellcome Trust, the UK Medical Research Council, the Irish Health Research Board (project grant 101/97) and the Royal Society.",
year = "2001",
doi = "10.1038/ng759",
language = "English",
volume = "29",
pages = "261--262",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "3",
}