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

Anja T. Rovio, David R. Marchington, Susanne Donat, Hans Christian Schuppe, Josef Abel, Ellen Fritsche, David J. Elliott, Pekka Laippala, Arja L. Ahola, David McNay, Robert F. Harrison, Barbara Hughes, Thomas Barrett, David M.D. Bailey, Denise Mehmet, Anne M. Jequier, Tim B. Hargreave, Shu Huei Kao, James M. Cummins, David E. BartonHoward J. Cooke, Yau Huei Wei, Lars Wichmann, Joanna Poulton, Howard T. Jacobs

研究成果: 雜誌貢獻文章同行評審

156 引文 斯高帕斯(Scopus)

摘要

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.
原文英語
頁(從 - 到)261-262
頁數2
期刊Nature Genetics
29
發行號3
DOIs
出版狀態已發佈 - 2001
對外發佈Yes

ASJC Scopus subject areas

  • Genetics

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