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:
Sep. 25, 2007
Filed:
Dec. 13, 2001
Applicants:
James R. Lupski, Houston, TX (US);
Cornelius F. Boerkoel, Iii, Houston, TX (US);
Hiroshi Takashima, Houston, TX (US);
Inventors:
James R. Lupski, Houston, TX (US);
Cornelius F. Boerkoel, III, Houston, TX (US);
Hiroshi Takashima, Houston, TX (US);
Assignee:
Baylor College of Medicine, Houston, TX (US);
Attorney:
Primary Examiner:
Int. Cl.
CPC ...
C12Q 1/68 (2006.01); C07H 21/02 (2006.01);
U.S. Cl.
CPC ...
Abstract
The present invention relates to defects in periaxin (PRX) associated with myelinopathies, including Charcot-Marie-Tooth syndrome and/or Dejerine-Sottas syndrome. Unrelated individuals having a myelinopathy from Dejerine-Sottas syndrome have recessive PRX mutations. The PRX locus maps to a region associated with a severe autosomal recessive demyelinating neuropathy and is also syntenic to the Prx location on murine chromosome 7.