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Using an Expert Computer System to Augment the Detection of Familial Hypercholesterolaemia in a Community Laboratory

✍ Scribed by Bell, D.; Edwards, G.; Hooper, A.; McMahon, J.; van Bockxmeer, F.; Watts, G.; Burnett, J.

Book ID
123292313
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
69 KB
Volume
22
Category
Article
ISSN
1443-9506

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The single-strand conformational polymorphism (SSCP) method was used to look for mutations in the 3' half of exon 4 of the low-density lipoprotein receptor gene in patients with familial hypercholesterolaemia (FH). One set of conditions were found which allowed the detection of four of the mutations