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filingDate 2000-05-04-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationDate 2003-04-15-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber JP-2003513614-A
titleOfInvention Diagnosis of primary congenital glaucoma
abstract (57) [Summary]nA method for diagnosing primary congenital glaucoma by detecting a specific mutation in the human cytochrome P4501B1 (CYP1B1) gene is disclosed. The method includes hybridization analysis such as Southern or Northern analysis using hybridization of a mutant nucleic acid probe to the CYP1B1 gene; direct mutation analysis by restriction digestion; sequencing of the CYP1B1 gene; amplification of an allele-specific oligonucleotide. Hybridization with genomic DNA; or identifying the presence of muteins encoded by the CYP1B1 gene.
isCitedBy http://rdf.ncbi.nlm.nih.gov/pubchem/patent/JP-2009065908-A
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type http://data.epo.org/linked-data/def/patent/Publication

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