C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01) C07H 21/00 (2006.01) C40B 30/04 (2006.01) C40B 40/06 (2006.01)
Patent
CA 2395781
Compositions useful for examining the PKD1 gene are provided. In addition, methods for detecting mutations of the PKD1 gene, which can be associated with autosomal dominant polycystic kidney disease in humans, are provided. Methods for diagnosing a mutant PKD1 gene sequence in a subject also are provided, as are methods of treating a subject having a PKD1-associated disorder.
La présente invention concerne des compositions utiles pour examiner le gène PKD1. Cette invention concerne aussi des techniques de détection des mutations du gène PKD1, qui peuvent être associées à la polykystose rénale autosomique dominante chez l'homme. Cette invention concerne enfin des techniques permettant de diagnostiquer une séquence du gène PKD1 mutante chez un patient ainsi que des techniques de traitement d'un patient atteint de pathologie associée au gène PKD1.
Germino Gregory G.
Phakdeekitcharoen Bunyong
Watnick Terry J.
Mbm Intellectual Property Law Llp
The Johns Hopkins University School Of Medicine
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