发明名称 |
Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth disease |
摘要 |
A description of an isolated CMTIA-REP sequence and DNA probes to the sequence. Methods for the use of such sequences and probes to detect peripheral neuropathies. A method for detecting Charcot-Marie-Tooth disease type 1 by measuring the presence or absence of a DNA duplication in a gene locus associated with the CMTIA-REP sequence. A method for detecting Hereditary Neuropathy with Liability to Pressure Palsies by measuring the presence or absence of a DNA deletion in a gene locus associated with the CMTIA-REP sequence.
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申请公布号 |
US5780223(A) |
申请公布日期 |
1998.07.14 |
申请号 |
US19930129902 |
申请日期 |
1993.09.30 |
申请人 |
BAYLOR COLLEGE OF MEDICINE |
发明人 |
LUPSKI, JAMES R.;PENTAO, LIU;ROA, BENJAMIN B.;ABBAS, NACER E.;PATEL, PRAGNA I. |
分类号 |
C07K14/47;C12Q1/68;(IPC1-7):C12Q1/68;C07H21/02 |
主分类号 |
C07K14/47 |
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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