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.

Date of Patent:
Apr. 24, 2012

Filed:

Feb. 23, 2007
Applicants:

Nicholas Katsanis, Perry Hall, MD (US);

Helene Dollfus, Strasbourg, FR;

Corinne Stoetzel, Segersheim, FR;

Erica E. Davis, Parkville, MD (US);

Philip L. Beales, London, GB;

Jean-louis Mandel, Schiltigheim, FR;

Richard Alan Lewis, Houston, TX (US);

Inventors:

Nicholas Katsanis, Perry Hall, MD (US);

Helene Dollfus, Strasbourg, FR;

Corinne Stoetzel, Segersheim, FR;

Erica E. Davis, Parkville, MD (US);

Philip L. Beales, London, GB;

Jean-Louis Mandel, Schiltigheim, FR;

Richard Alan Lewis, Houston, TX (US);

Assignee:

Other;

Attorney:
Primary Examiner:
Int. Cl.
CPC ...
C12Q 1/68 (2006.01);
U.S. Cl.
CPC ...
Abstract

The present invention relates to the identification of a gene, designated BBS1O, that is involved in the genetic disease Bardet Biedl Syndrome (BBS), which is characterized by such diverse symptoms as obesity, diabetes, hypertension, mental retardation, renal cancer and other abnormalities, retinopathy and hypogonadism. Methods of use for the gene, for example in diagnosis and therapy of BBS, also are described.


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