发明名称 |
SPINAL MUSCULAR ATROPHY DIAGNOSTIC METHODS |
摘要 |
The present invention relates to the discovery of the human survival motor-neuron gene or SMD gene, which is a chromosome 5-SMA (Spinal Muscular Atrophy) determining gene. The present invention further relates to the nucleotide sequence encoding the SMN gene and corresponding amino acid sequence, a vector containing the gene encoding the SMN protein or a DNA sequence corresponding to the gene and transformant strains containing the SMN gene or a DNA sequence corresponding to the gene. |
申请公布号 |
US2013323759(A1) |
申请公布日期 |
2013.12.05 |
申请号 |
US201313758754 |
申请日期 |
2013.02.04 |
申请人 |
LA SANTE ET DE LA RECHERCHE MEDICALE INSTITUT NATIONAL DE;INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE |
发明人 |
MELKI JUDITH;MUNNICH ARNOLD |
分类号 |
C12N15/09;G01N33/68;A61K38/00;C07H21/04;C07K14/47;C07K14/475;C07K16/00;C07K16/18;C12N5/10;C12N15/12;C12Q1/68 |
主分类号 |
C12N15/09 |
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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