C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01) C07K 14/47 (2006.01) C07K 16/18 (2006.01) C12N 5/10 (2006.01) C12N 15/12 (2006.01) A61K 38/00 (2006.01)
Patent
CA 2283293
The present invention is based, in part, on the identification of the roles of the human ATP-sensitive K+ channel, ENaC in causing pathological condition associated with abnormal ion transport, particularly PHA1. The present invention specifically provides the amino acid sequence of several human altered variants of the ENaC protein as well as the nucleotide sequence that encodes these variants that can be used in diagnosing ion transport disorders.
Cette invention est fondée d'une part sur l'identification des rôles du canal K?+¿ humain sensible à l'ATP, ENaC, qui provoque un état pathologique associé à un transport ionique anormal, plus particulièrement le PHA1. D'une manière plus spécifique cette invention concerne la séquence d'acides aminés de plusieurs variants humains altérés de la protéine ENaC ainsi que la séquence nucléotidique codant ces variants qu'on peut utiliser pour diagnostiquer des dérèglements du transport d'ions.
Chang Sue S.
Lifton Richard P.
Rossier Bernard C.
Deeth Williams Wall Llp
Yale University
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