Organic compounds -- part of the class 532-570 series – Organic compounds – Carbohydrates or derivatives
Patent
1995-05-15
1997-10-28
Arthur, Lisa B.
Organic compounds -- part of the class 532-570 series
Organic compounds
Carbohydrates or derivatives
536 242, 536 2431, 536 2433, C07H 2104
Patent
active
056819420
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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Buchwald Manuel
Mathew Christopher George Porter
Strathdee Craig A.
Wevrick Rachel
Arthur Lisa B.
HSC Research & Development Limited Partnership
The United Medical And Dental Schools of Guy's and St. Thomas's
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