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A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.
Wedenoja, Satu; Khamaysi, Ahlam; Shimshilashvili, Liana; Anbtawe-Jomaa, Shireen; Elomaa, Outi; Toppari, Jorma; Höglund, Pia; Aittomäki, Kristiina; Holmberg, Christer; Hovatta, Outi; Tapanainen, Juha S; Ohana, Ehud; Kere, Juha.
Afiliação
  • Wedenoja S; Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, FI-00014, Helsinki, Finland. satu.wedenoja@helsinki.fi.
  • Khamaysi A; Department of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
  • Shimshilashvili L; Department of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
  • Anbtawe-Jomaa S; Department of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
  • Elomaa O; Folkhälsan Institute of Genetics, and Molecular Neurology Research Program, University of Helsinki, FI-00014, Helsinki, Finland.
  • Toppari J; Department of Physiology, Institute of Biomedicine, University of Turku, and Department of Pediatrics, Turku University Hospital, FI-20014, Turku, Finland.
  • Höglund P; City of Kauniainen, Health Care Services, FI-02700, Kauniainen, Finland.
  • Aittomäki K; HUSLAB, Laboratory of Genetics, Helsinki University Hospital, and Genome-Scale Biology research program, University of Helsinki, FI-00029, Helsinki, Finland.
  • Holmberg C; Hospital for Children and Adolescents, University of Helsinki and Helsinki University Hospital, FI-00014, Helsinki, Finland.
  • Hovatta O; Department of Clinical Science, Karolinska Institutet, SE-17177, Stockholm, Sweden.
  • Tapanainen JS; Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, FI-00014, Helsinki, Finland.
  • Ohana E; Obstetrics and Gynecology, University of Oulu and Oulu University Hospital, FI-90220, Oulu, Finland.
  • Kere J; Department of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel. ohanaeh@bgu.ac.il.
Sci Rep ; 7(1): 14208, 2017 10 27.
Article em En | MEDLINE | ID: mdl-29079751
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Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 3_ND Base de dados: MEDLINE Assunto principal: Regulador de Condutância Transmembrana em Fibrose Cística / Mutação de Sentido Incorreto / Antiportadores de Cloreto-Bicarbonato / Transportadores de Sulfato / Infertilidade Masculina Tipo de estudo: Risk_factors_studies Limite: Humans / Male Idioma: En Revista: Sci Rep Ano de publicação: 2017 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 3_ND Base de dados: MEDLINE Assunto principal: Regulador de Condutância Transmembrana em Fibrose Cística / Mutação de Sentido Incorreto / Antiportadores de Cloreto-Bicarbonato / Transportadores de Sulfato / Infertilidade Masculina Tipo de estudo: Risk_factors_studies Limite: Humans / Male Idioma: En Revista: Sci Rep Ano de publicação: 2017 Tipo de documento: Article