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Mutation screening in patients for familial hypercholesterolaemia (ADH)

โœ Scribed by A Taylor; K Patel; J Tsedeke; SE Humphries; G Norbury

Book ID
110888894
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
491 KB
Volume
77
Category
Article
ISSN
0009-9163

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โœ Markku J. Savolainen; Taina Korhonen; Katriina Aalto-Setรคlรค; Kimmo Kontula; Y. A ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› Springer ๐ŸŒ English โš– 461 KB

A rapid new method for the diagnosis of familial hypercholesterolaemia (FH) detects the deletion extending from intron 15 to exon 18 in the low density lipoprotein (LDL) receptor gene, i.e. the FH-Helsinki mutation responsible for a major portion of FH in Finland. Amplification of the DNA sequences