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:
Aug. 06, 2019
Filed:
Feb. 10, 2015
The Broad Institute, Inc., Cambridge, MA (US);
The General Hospital Corporation, Boston, MA (US);
Instituto Carlos Slim DE LA Salud, A.c., Mexico City, MX;
Andrew Kirby, Wellesley, MA (US);
Andreas Gnirke, Wellesley, MA (US);
Brendan Blumenstiel, Arlington, MA (US);
Matthew Defelice, Salem, MA (US);
Mark Daly, Arlington, MA (US);
THE BROAD INSTITUTE, INC., Cambridge, MA (US);
THE GENERAL HOSPITAL CORPORATION, Boston, MA (US);
INSTITUTO CARLOS SLIM DE LA SALUD, A.C., Mexico City, MX;
Abstract
The present invention features a highly sensitive assay for detecting frameshift mutations for high throughput use. Also provided herein are methods for diagnosing or determining a predisposition for developing medullary cystic kidney disease type 1 (MCKD1) in a subject by detecting a frameshift mutation in the GC-rich variable number of tandem repeats (VNTR) sequence of the mucin 1 gene (MUC-1).