Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.

Cheng, Chih-Jen; Lo, Yi-Fen; Chen, Jen-Chi; Huang, Chou-Long; Lin, Shih-Hua

Cheng, Chih-Jen; Lo, Yi-Fen; Chen, Jen-Chi; Huang, Chou-Long; Lin, Shih-Hua.

Afiliação

Cheng CJ; Department of Medicine, Division of Nephrology, Tri-Service General Hospital, National Defense Medical Center, Taipei, 114, Taiwan.
Lo YF; Department of Medicine, Division of Nephrology, Tri-Service General Hospital, National Defense Medical Center, Taipei, 114, Taiwan.
Chen JC; Department of Medicine, Division of Nephrology, Tri-Service General Hospital, National Defense Medical Center, Taipei, 114, Taiwan.
Huang CL; Department of Medicine, Division of Nephrology, University of Texas Southwestern Medical Center, Dallas, TX, 75390-8856, USA.
Lin SH; Department of Medicine, Division of Nephrology, Tri-Service General Hospital, National Defense Medical Center, Taipei, 114, Taiwan.

J Physiol ; 595(16): 5573-5586, 2017 08 15.

Article em En | MEDLINE | ID: mdl-28555925

Assuntos

Síndrome de Bartter/genética; Canais de Cloreto/genética; Adolescente; Adulto; Criança; Canais de Cloreto/fisiologia; Células HEK293; Humanos; Lactente; Pessoa de Meia-Idade; Mutação; Fenótipo; Adulto Jovem

Palavras-chave

CLCNKB gene; ClC-Kb chloride channel; classic Bartter''s syndrome

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Bartter / Canais de Cloreto Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Humans / Infant / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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