Methods and compositions for the detection of Familial Hyperchol

Chemistry: molecular biology and microbiology – Treatment of micro-organisms or enzymes with electrical or... – Modification of viruses

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435 6, 435320, 435253, 536 27, 935 9, 935 27, 935 72, 935 78, C12N 1500, C12N 120, C12Q 168, C07H 2100

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047450606

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 deletion mutation is detailed with great precision through the practice of this invention.

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