MOLECULAR DIAGNOSTIC OF GLAUCOMAS ASSOCIATED WITH CHROMOSOMES 1, AND METHOD OF TREATMENT THEREOF

摘要

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 discovery. The present invention further relates to easy and efficient means to detect mutations in the TIGR/MYOC gene. Further, the present invention relates to methods to diagnose and treat glaucoma or other diseases or conditions in which homoallelic complementation is observed.