Molecular diagnostic of glaucomas associated with chromosomes 1

Details Molecular diagnostic of glaucomas associated with chromosomes 1 Molecular diagnostic of glaucomas associated with chromosomes 1

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) C07H 21/00 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2216997

The present invention discloses the discovery that in an autosomally inherited disease, a homozygote mutant is found to be phenotypically normal and the uses of such a knowledge thereof. The present invention has designed an easy and efficient means to detect mutations in the GLC1A/TIGR gene.

On dévoile que, dans une maladie héréditaire autosomique, un mutant homozygote a un phénotype normal, ainsi que les utilisations que l'on peut faire de cette découverte. Un moyen facile et efficace de détecter des mutations dans le gène GLC1A/TIGR est également divulgué.

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