Molecular diagnostic of glaucomas associated with chromosome...

C - Chemistry – Metallurgy – 12 – N

Patent

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C12N 15/12 (2006.01) A61K 31/70 (2006.01) A61K 39/395 (2006.01) A61K 48/00 (2006.01) C07H 21/04 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2231720

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

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