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Novel SLCO2A1compound heterozygous mutation causing primary hypertrophic osteoarthropathy with Bartter-like hypokalemia in a Chinese family.
Jiang, Y; Du, J; Song, Y-W; Wang, W-B; Pang, Q-Q; Li, M; Wang, O; Lian, X-L; Xing, X-P; Xia, W-B.
Afiliação
  • Jiang Y; Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China.
  • Du J; Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China.
  • Song YW; Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China.
  • Wang WB; Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China.
  • Pang QQ; Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China.
  • Li M; Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China.
  • Wang O; Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China.
  • Lian XL; Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China.
  • Xing XP; Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China.
  • Xia WB; Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China. xiaweibo8301@163.com.
J Endocrinol Invest ; 42(10): 1245-1252, 2019 Oct.
Article em En | MEDLINE | ID: mdl-31004291
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteoartropatia Hipertrófica Primária / Síndrome de Bartter / Mutação de Sentido Incorreto / Transportadores de Ânions Orgânicos / Hipopotassemia Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteoartropatia Hipertrófica Primária / Síndrome de Bartter / Mutação de Sentido Incorreto / Transportadores de Ânions Orgânicos / Hipopotassemia Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article