Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

Davies, N P; Imbrici, P; Fialho, D; Herd, C; Bilsland, L G; Weber, A; Mueller, R; Hilton-Jones, D; Ealing, J; Boothman, B R; Giunti, P; Parsons, L M; Thomas, M; Manzur, A Y; Jurkat-Rott, K; Lehmann-Horn, F; Chinnery, P F; Rose, M; Kullmann, D M; Hanna, M G

Davies, N P; Imbrici, P; Fialho, D; Herd, C; Bilsland, L G; Weber, A; Mueller, R; Hilton-Jones, D; Ealing, J; Boothman, B R; Giunti, P; Parsons, L M; Thomas, M; Manzur, A Y; Jurkat-Rott, K; Lehmann-Horn, F; Chinnery, P F; Rose, M; Kullmann, D M; Hanna, M G.

Affiliation

Davies NP; Muscle and Nerve Centre, Queen Elizabeth Hospital, University of Birmingham NHS Trust, UK.

Neurology ; 65(7): 1083-9, 2005 Oct 11.

Article in En | MEDLINE | ID: mdl-16217063

Subject(s)

Andersen Syndrome/genetics; Genetic Predisposition to Disease/genetics; Mutation/genetics; Potassium Channels/genetics; Adolescent; Adult; Andersen Syndrome/physiopathology; Animals; Child; Child, Preschool; DNA Mutational Analysis; Female; Genetic Testing; Humans; Infant; Kidney Tubules/abnormalities; Male; Oocytes; Phenotype; Potassium Channels, Inwardly Rectifying/genetics; Tooth Abnormalities/genetics; Xenopus laevis

Search on Google

XML

PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Potassium Channels / Genetic Predisposition to Disease / Andersen Syndrome / Mutation Limits: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Neurology Year: 2005 Document type: Article

Search on Google

XML

PubMed Links