Human galactokinase gene

Details Human galactokinase gene Human galactokinase gene

C - Chemistry, Metallurgy

12

N

C12N 15/54 (2006.01) A01K 67/027 (2006.01) C07K 16/40 (2006.01) C12N 9/12 (2006.01) C12Q 1/68 (2006.01) G01N 33/573 (2006.01)

Patent

CA 2200583

This invention relates to human galactokinase and the identification of galactokinase mutations, a missense and nonsense, as well as isolated nucleic acids encoding same, recombinant host cell transformed with DNA encoding such proteins and to uses of the expressed proteins and nucleic acid sequences in therapeutic and diagnostic applications.

Cette invention se rapporte à la galactokinase humaine et à l'identification des mutations de la galactokinase, une mutation faux-sens et une mutation non-sens, ainsi qu'à des acides nucléiques isolés codant ces mutations, à une cellule hôte de recombinaison transformée par l'ADN codant ces protéines, et aux utilisations des protéines exprimées et des séquences d'acides nucléiques dans des applications thérapeutiques et diagnostiques.

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