Methods and compositions for the detection of Familial Hypercholesterolemia
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United States of America Patent
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May 17, 1988
Grant Date -
N/A
app pub date -
Dec 28, 1984
filing date -
Dec 28, 1984
priority date (Note) -
Expired
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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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Family
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