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Expanding the sperm phenotype caused by mutations in SPATA20: A novel splicing mutation in an infertile patient with partial globozoospermia.
Martinez, Guillaume; Metzler-Guillemain, Catherine; Cazin, Caroline; Kherraf, Zine-Eddine; Paulmyer-Lacroix, Odile; Arnoult, Christophe; Ray, Pierre F; Coutton, Charles.
Afiliação
  • Martinez G; Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France.
  • Metzler-Guillemain C; INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, University of Grenoble Alpes, Grenoble, France.
  • Cazin C; Assistance-Publique des Hôpitaux de Marseille (AP-HM), Pôle Femmes-Parents-Enfants, Centre Clinico-biologique AMP-CECOS, Marseille, France.
  • Kherraf ZE; INSERM, MMG, UMR 1251, Aix Marseille University, Marseille, France.
  • Paulmyer-Lacroix O; INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, University of Grenoble Alpes, Grenoble, France.
  • Arnoult C; CHU Grenoble Alpes, UM GI-DPI, Grenoble, France.
  • Ray PF; INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, University of Grenoble Alpes, Grenoble, France.
  • Coutton C; CHU Grenoble Alpes, UM GI-DPI, Grenoble, France.
Clin Genet ; 103(5): 612-614, 2023 05.
Article em En | MEDLINE | ID: mdl-36537262
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Teratozoospermia / Infertilidade / Infertilidade Masculina Limite: Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Teratozoospermia / Infertilidade / Infertilidade Masculina Limite: Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article