Methods and compositions for the detection of familial...

Details Methods and compositions for the detection of familial... Methods and compositions for the detection of familial...

C - Chemistry, Metallurgy

12

N

195/1.22, 195/1.

C12N 13/00 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 1280378

ABSTRACT Recombinant DNA transfer vectors containing DNA inserts which are complementary to either the human LDL receptor gene, or its mRNA transcript, are disclosed. Also disclosed are methods which utilize these genetic probes for diagnosing Familial Hypercholesterolemia (FH) in a suspected individual. A case study of one such individual, FH 274, is disclosed wherein the genetic dele- tion mutation is detailed with great precision through the practice of this invention.

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