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filingDate 2007-08-14-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_2fd83fd4f5463dbc72bbce7895920e4a
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publicationDate 2008-03-06-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber US-2008057509-A1
titleOfInvention Defects in Periaxin Associated with Myelinopathies
abstract The present invention relates to defects in periaxin (PRX) associated with myelinopathies, including Charcot-Marie-Tooth syndrome and/or Dejerine-Sottas syndrome. Unrelated individuals having a myelinopathy from Dejerine-Sottas syndrome have recessive PRX mutations. The PRX locus maps to a region associated with a severe autosomal recessive demyelinating neuropathy and is also syntenic to the Prx location on murine chromosome 7.
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priorityDate 2000-12-13-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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Total number of triples: 943.