The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Mar. 22, 2022
Filed:
May. 21, 2018
Icahn School of Medicine AT Mount Sinai, New York, NY (US);
Lisa Edelmann, New York, NY (US);
Robert J. Desnick, New York, NY (US);
Icahn School of Medicine at Mount Sinai, New York, NY (US);
Abstract
Materials and methods for identifying carriers of genetic determinants of spinal muscular atrophy are disclosed. In particular, polymorphisms in linkage disequilibrium are associated as markers of spinal muscular atrophy alleles detectable by various techniques, including multiplex ligation-dependent probe analysis, sequence analysis, and RFLP detection. The materials and methods of the disclosure are particularly useful in identifying silent (2+0) carriers of spinal muscular atrophy in which two copies of the SMN1 gene are located on a single human chromosome 5 and no copies of the gene are located on the chromosome 5 homolog.