Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome.

Jeck, N; Derst, C; Wischmeyer, E; Ott, H; Weber, S; Rudin, C; Seyberth, H W; Daut, J; Karschin, A; Konrad, M

Jeck, N; Derst, C; Wischmeyer, E; Ott, H; Weber, S; Rudin, C; Seyberth, H W; Daut, J; Karschin, A; Konrad, M.

Affiliation

Jeck N; Department of Pediatrics, Philipps-University, Marburg, Germany.

Kidney Int ; 59(5): 1803-11, 2001 May.

Article in En | MEDLINE | ID: mdl-11318951

Subject(s)

Bartter Syndrome/genetics; Mutation; Potassium Channels, Inwardly Rectifying; Potassium Channels/genetics; Prostaglandins E/metabolism; Animals; Bartter Syndrome/metabolism; Base Sequence; Child, Preschool; Codon, Nonsense; DNA Primers/genetics; Exons; Female; Genetic Linkage; Humans; In Vitro Techniques; Infant; Male; Mutation, Missense; Oocytes/metabolism; Pedigree; Potassium Channels/chemistry; Potassium Channels/metabolism; Sequence Deletion; Syndrome; Transfection; Xenopus

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Collection: 01-internacional Database: MEDLINE Main subject: Prostaglandins E / Bartter Syndrome / Potassium Channels / Potassium Channels, Inwardly Rectifying / Mutation Limits: Animals / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Kidney Int Year: 2001 Document type: Article

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