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:
Jun. 30, 1998
Filed:
May. 03, 1991
Applicant:
Inventors:
Edward H Schuchman, New York, NY (US);
Robert J Desnick, New York, NY (US);
Assignee:
Mount Sinai Medical Center, New York, NY (US);
Attorney:
Primary Examiner:
Int. Cl.
CPC ...
C12N / ; C12N / ; C07H / ;
U.S. Cl.
CPC ...
435358 ; 4353201 ; 435325 ; 435364 ; 435365 ; 435367 ; 435369 ; 536 232 ; 536 2431 ;
Abstract
The present invention relates to the acid sphingomyelinase gene and to methods of diagnosing Niemann-Pick disease. It is based, at least in part, on the cloning and expression of the full-length cDNA encoding acid sphingomyelinase and on the discovery of mutations in the acid sphingomyelinase gene of Ashkenazi Jewish Niemann-Pick disease patients.