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A novel mutant Na+ /HCO3- cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis.
Myers, Evan J; Yuan, Lu; Felmlee, Melanie A; Lin, Yuan-Yuan; Jiang, Yan; Pei, Yu; Wang, Ou; Li, Mei; Xing, Xiao-Ping; Marshall, Aniko; Xia, Wei-Bo; Parker, Mark D.
Afiliação
  • Myers EJ; Department of Physiology and Biophysics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo: The State University of New York, Buffalo, New York, NY, USA.
  • Yuan L; Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
  • Felmlee MA; Department of Pharmaceutical Sciences, School of Pharmacy and Pharmaceutical Sciences, University at Buffalo: The State University of New York, Buffalo, New York, NY, USA.
  • Lin YY; Department of Pharmaceutics and Medicinal Chemistry, Thomas J. Long School of Pharmacy and Health Sciences, University of the Pacific, Stockton, California, USA.
  • Jiang Y; Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
  • Pei Y; Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
  • Wang O; Department of Endocrinology, Chinese People's Army General Hospital, Beijing, China.
  • Li M; Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
  • Xing XP; Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
  • Marshall A; Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
  • Xia WB; Department of Physiology and Biophysics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo: The State University of New York, Buffalo, New York, NY, USA.
  • Parker MD; Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China. xiaweibo8301@163.com.
J Physiol ; 594(21): 6267-6286, 2016 11 01.
Article em En | MEDLINE | ID: mdl-27338124
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acidose Tubular Renal / Mutação de Sentido Incorreto / Simportadores de Sódio-Bicarbonato Limite: Adult / Animals / Humans / Male Idioma: En Revista: J Physiol Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acidose Tubular Renal / Mutação de Sentido Incorreto / Simportadores de Sódio-Bicarbonato Limite: Adult / Animals / Humans / Male Idioma: En Revista: J Physiol Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos