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Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia.
Kasak, Laura; Punab, Margus; Nagirnaja, Liina; Grigorova, Marina; Minajeva, Ave; Lopes, Alexandra M; Punab, Anna Maria; Aston, Kenneth I; Carvalho, Filipa; Laasik, Eve; Smith, Lee B; Conrad, Donald F; Laan, Maris.
Affiliation
  • Kasak L; Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu 50411, Estonia.
  • Punab M; Andrology Centre, Tartu University Hospital, Tartu 50406, Estonia.
  • Nagirnaja L; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Grigorova M; Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu 50411, Estonia.
  • Minajeva A; Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu 50411, Estonia.
  • Lopes AM; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto 4200-135, Portugal; i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto 4200-135, Portugal.
  • Punab AM; Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu 50411, Estonia.
  • Aston KI; Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.
  • Carvalho F; i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto 4200-135, Portugal; Serviço de Genética, Departamento de Patologia, Faculdade de Medicina da Universidade do Porto, Porto 4200-319, Portugal.
  • Laasik E; Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu 50411, Estonia.
  • Smith LB; MRC Centre for Reproductive Health, University of Edinburgh, Edinburgh EH16 4TJ, UK; School of Environmental and Life Sciences, University of Newcastle, Callaghan, NSW 2308, Australia.
  • Conrad DF; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Laan M; Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu 50411, Estonia. Electronic address: maris.laan@ut.ee.
Am J Hum Genet ; 103(2): 200-212, 2018 08 02.
Article in En | MEDLINE | ID: mdl-30075111
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Full text: 1 Database: MEDLINE Main subject: DNA Helicases / Loss of Heterozygosity / Azoospermia Limits: Adult / Animals / Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2018 Type: Article Affiliation country: Estonia
Fulltext
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Full text: 1 Database: MEDLINE Main subject: DNA Helicases / Loss of Heterozygosity / Azoospermia Limits: Adult / Animals / Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2018 Type: Article Affiliation country: Estonia