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filingDate 2000-05-04-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_fd3c276756fd27a171a17266d6160c62
publicationDate 2002-11-13-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber EP-1255855-A2
titleOfInvention Diagnosis of primary congenital glaucoma
abstract Methods of diagnosing primary congenital glaucoma, by detecting particular mutations in a human cytochrome P4501B1 (CYP1B1) gene, are disclosed. Methods include hybridization analysis, such as Southern or Northern analysis, which use hybridization of a mutant nucleic acid probe to the CYP1B1 gene; direct mutation analysis by restriction digest; sequencing of the CYP1B1 gene; hybridization of an allele-specific oligonucleotide with amplified genomic DNA; or identification of the presence of mutant proteins encoded by the CYP1B1 gene.
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type http://data.epo.org/linked-data/def/patent/Publication

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