logo

For the Inventor, By the Inventor

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.:

US 6548258 B1

PDFFull Text
Date of Patent:
Apr. 15, 2003

Filed:

Sep. 12, 2001

Methods for diagnosing tuberous sclerosis by detecting mutation in the tsc-1 gene

Applicant:
Inventors:

David J. Kwiatkowski, Weston, MA (US);

Julian R. Sampson, Llandaff, GB;

Margaret S. Povey, Leighton Buzzard, GB;

Marjon A. van Slegtenhorst, Hoogland, NL;

Dicky J. J. Halley, Rotterdam, NL;

Assignee:

Brigham and Women's Hospital, Boston, MA (US);

Attorney:
Primary Examiner:

Carla J Myers

Assistant Examiner:

Sally Sakelaris

Int. Cl.
CPC ...
C12Q 1/68 ; C12P 1/934 ; C07H 2/102 ; C07H 2/104 ;
U.S. Cl.
CPC ...
C12Q 1/68 ; C12P 1/934 ; C07H 2/102 ; C07H 2/104 ;
Abstract

The present invention is directed to a tumor suppressor protein which has been designated hamartin and to the gene, TSC1, which encodes this protein. Mutations in the gene have been found to be associated with certain types of tuberous sclerosis and this has served as a basis for a diagnostic method designed to identify patients that have, or are likely to develop, symptoms associated with this disease. The introduction of the TSC1 gene and subsequent expression of hamartin into cells may be used as a means for treating tuberous sclerosis and other conditions characterized by abnormal cellular growth.

Find Patent Forward Citations

Kwiatkowski, David. (2003). Methods for diagnosing tuberous sclerosis by detecting mutation in the tsc-1 gene (U.S. Patent No. 6548258). U.S. Patent and Trademark Office. https://idiyas.com/patent/badge/6548258

Data source: USPTO (United States Patent and Trademark Office) public patent records. Weekly synchronization. How IDiyas builds this profile

Loading…