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:
Oct. 28, 1997

Filed:

May. 15, 1995
Applicant:
Inventors:

Manuel Buchwald, Toronto, CA;

Craig A Strathdee, Nepean, CA;

Rachel Wevrick, Menlo Park, CA (US);

Christopher George Mathew, London, GB;

Attorney:
Primary Examiner:
Int. Cl.
CPC ...
C07H / ;
U.S. Cl.
CPC ...
536 235 ; 536 242 ; 536 2431 ; 536 2433 ;
Abstract

Fanconi Anemia is a human genetic disease, the precise cause of which is, to date, unknown. This invention provides an isolated human cDNA molecule which is able to specifically complement, in one type of Fanconi Anemia, (type C) the characteristic defect exhibited by cells derived from patients with Fanconi Anemia. The genomic gene from which this cDNA is derived is also provided as is the sequence of the protein encoded by this gene. Mutations in this gene are proposed to underlie Fanconi Anemia Type C. Diagnostic and therapeutic applications which derive from this work are described. The murine homolog of the human cDNA is also provided.


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