发明名称 |
Defects in Periaxin Associated with Myelinopathies |
摘要 |
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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申请公布号 |
US2008057509(A1) |
申请公布日期 |
2008.03.06 |
申请号 |
US20070838500 |
申请日期 |
2007.08.14 |
申请人 |
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发明人 |
LUPSKI JAMES R.;BOERKOEL CORNELIUS F.III;TAKASHIMA HIROSHI |
分类号 |
C12Q1/68;G01N33/50;A61K35/12;A61K35/76;A61K38/00;A61K45/00;A61K48/00;A61P25/00;C07K14/47;C12N15/09;C12Q1/02;G01N33/15;G01N33/68 |
主分类号 |
C12Q1/68 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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