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A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I.
Halperin, Daniel; Dolgin, Vadim; Geylis, Michael; Drabkin, Max; Yogev, Yuval; Wormser, Ohad; Schreiber, Ruth; Shalev, Hanna; Landau, Daniel; Birk, Ohad S.
Affiliation
  • Halperin D; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
  • Dolgin V; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
  • Geylis M; Pediatric Nephrology Clinic, Soroka University Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Drabkin M; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
  • Yogev Y; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
  • Wormser O; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
  • Schreiber R; Pediatric Nephrology Clinic, Soroka University Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Shalev H; Pediatric Nephrology Clinic, Soroka University Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Landau D; Pediatrics Department A, Soroka University Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Birk OS; Pediatrics Department B, Schneider Children's Medical Center, Petah Tikva, Israel.
Ann Hum Genet ; 83(5): 361-366, 2019 09.
Article de En | MEDLINE | ID: mdl-30977917

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Syndrome de Bartter / Arabes / Mutation faux-sens / Membre-1 de la famille-12 des transporteurs de solutés Type d'étude: Prognostic_studies Limites: Female / Humans / Male / Newborn Pays/Région comme sujet: Asia Langue: En Journal: Ann Hum Genet Année: 2019 Type de document: Article Pays d'affiliation: Israël Pays de publication: Royaume-Uni

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Syndrome de Bartter / Arabes / Mutation faux-sens / Membre-1 de la famille-12 des transporteurs de solutés Type d'étude: Prognostic_studies Limites: Female / Humans / Male / Newborn Pays/Région comme sujet: Asia Langue: En Journal: Ann Hum Genet Année: 2019 Type de document: Article Pays d'affiliation: Israël Pays de publication: Royaume-Uni