专利内容由知识产权出版社提供
专利名称：Materials and Methods for Identifying Spinal
Muscular Atrophy Carriers
发明人：Lisa Edelmann,Robert J. Desnick申请号：US14122871申请日：20120607
公开号：US20140199695A1公开日：20140717
摘要：Materials and methods for identifying carriers of genetic determinants of spinalmuscular atrophy are disclosed. In particular, polymorphisms in linkage disequilibrium areassociated as markers of spinal muscular atrophy alleles detectable by various
techniques, including multiplex ligation-dependent probe analysis, sequence analysis, andRFLP detection. The materials and methods of the disclosure are particularly useful inidentifying silent (2+0) carriers of spinal muscular atrophy in which two copies of theSMN1 gene are located on a single human chromosome 5 and no copies of the gene arelocated on the chromosome 5 homolog.
申请人：Lisa Edelmann,Robert J. Desnick
地址：Bronx NY US,New York NY US
国籍：US,US
更多信息请下载全文后查看
