Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function.

Goji, K; Kuwahara, M; Gu, Y; Matsuo, M; Marumo, F; Sasaki, S

Goji, K; Kuwahara, M; Gu, Y; Matsuo, M; Marumo, F; Sasaki, S.

Affiliation

Goji K; Department of Endocrinology and Metabolism, Kobe Children's Hospital, Japan.

J Clin Endocrinol Metab ; 83(9): 3205-9, 1998 Sep.

Article in En | MEDLINE | ID: mdl-9745427

Subject(s)

Aquaporins; Diabetes Insipidus, Nephrogenic/genetics; Ion Channels/genetics; Ion Channels/physiology; Mutation; Amino Acid Sequence; Animals; Aquaporin 2; Aquaporin 6; Cell Membrane/chemistry; Child, Preschool; Female; Gene Expression; Humans; Immunoblotting; Infant, Newborn; Ion Channels/chemistry; Molecular Sequence Data; Oocytes/metabolism; Pedigree; Transfection; Xenopus laevis

Search on Google

XML

PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Diabetes Insipidus, Nephrogenic / Aquaporins / Ion Channels / Mutation Limits: Animals / Child, preschool / Female / Humans / Newborn Language: En Journal: J Clin Endocrinol Metab Year: 1998 Type: Article Affiliation country: Japan

Search on Google

XML

PubMed Links