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Novel mutations in the FREAC3 gene for diagnosis and prognosis of glaucoma and anterior segment dysgenesis
Novel mutations in the FREAC3 gene for diagnosis and prognosis of glaucoma and anterior segment dysgenesis
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机译:FREAC3基因的新型突变,用于青光眼的诊断和预后以及前节发育不全
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摘要
A method for diagnosing a mammal for an increased likelihood of developing a disease of the eye or having a developmental defect comprises analyzing a nucleic acid to determine whether it contains a mutation that encodes a mutant FREAC3 polypeptide. The presence of the mutation indicates that the mammal has an increased likelihood of developing a disease of the eye of having a developmental defect. Also described is a nucleic acid encoding a mutant FREAC3 polypeptide and a cultured cell containing the nucleic acid. A nucleic acid that encodes wild-type FREAC3 polypeptide can be used in the treatment of a disease of the eye.
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