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:
Nov. 30, 2004

Filed:

May. 22, 2001
Applicant:
Inventors:

Sue J. Kenwrick, Cambridge, GB;

Hayley Woffendin, Cambridge, GB;

Arnold Munnich, Paris, FR;

Asmae Smahi, Saint Ouen, FR;

Alain Israel, Paris, FR;

Annemarie Poustka, Heidelberg, 69120, DE;

Nina Heiss, Heidelberg, 69115, DE;

Michele D'Urso, Naples, IT;

Richard A. Lewis, Houston, TX (US);

David L. Nelson, Houston, TX (US);

Swaroop Aradhya, Houston, TX (US);

Moise Levy, Houston, TX (US);

Assignee:

Other;

Attorney:
Primary Examiner:
Int. Cl.
CPC ...
C12Q 1/00 ; C12Q 1/68 ; C12Q 1/70 ; G01N 3/353 ; C07H 2/104 ;
U.S. Cl.
CPC ...
C12Q 1/00 ; C12Q 1/68 ; C12Q 1/70 ; G01N 3/353 ; C07H 2/104 ;
Abstract

Incontinentia Pigmenti (IP) is a neurocutaneous genodermatosis that segregates as an X-linked dominant disorder with a high probability of prenatal male lethality. A locus in Xq28 containing NF-&kgr;B Essential Modulator, a gene product involved in the activation of NF-kB and central to many pro-inflammatory and apoptotic pathways, contains mutations in the majority of cases of IP. Disclosed are methods, compositions and kits directed to a defect in a NF-&kgr;B related disease such as IP.


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