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Mutations in SLC26A1 Cause Nephrolithiasis.
Gee, Heon Yung; Jun, Ikhyun; Braun, Daniela A; Lawson, Jennifer A; Halbritter, Jan; Shril, Shirlee; Nelson, Caleb P; Tan, Weizhen; Stein, Deborah; Wassner, Ari J; Ferguson, Michael A; Gucev, Zoran; Sayer, John A; Milosevic, Danko; Baum, Michelle; Tasic, Velibor; Lee, Min Goo; Hildebrandt, Friedhelm.
Afiliação
  • Gee HY; Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul 03722, Republic of Korea; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Jun I; Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul 03722, Republic of Korea; The Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul 03722, Korea.
  • Braun DA; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Lawson JA; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Halbritter J; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Endocrinology and Nephrology, Department of Internal Medicine, University Clinic Leipzig, Leipzig 04103, Germany.
  • Shril S; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Nelson CP; Divisions of Urology and General Pediatrics, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Tan W; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Stein D; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Wassner AJ; Division of Endocrinology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Ferguson MA; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Gucev Z; Medical Faculty Skopje, University Children's Hospital, Skopje 1000, Macedonia.
  • Sayer JA; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Milosevic D; Department of Pediatric Nephrology, Dialysis, and Transplantation, Clinical Hospital Center Zagreb, University of Zagreb Medical School, Zagreb 10000, Croatia.
  • Baum M; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Tasic V; Medical Faculty Skopje, University Children's Hospital, Skopje 1000, Macedonia.
  • Lee MG; Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul 03722, Republic of Korea. Electronic address: mlee@yuhs.ac.
  • Hildebrandt F; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Electronic address: friedhelm.hildebrandt@childrens.harvard.edu.
Am J Hum Genet ; 98(6): 1228-1234, 2016 06 02.
Article em En | MEDLINE | ID: mdl-27210743
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte de Ânions / Nefrolitíase / Mutação Limite: Humans Idioma: En Ano de publicação: 2016 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: Proteínas de Transporte de Ânions / Nefrolitíase / Mutação Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article