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Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

โœ Scribed by Talmud, Philippa J; Shah, Sonia; Whittall, Ros; Futema, Marta; Howard, Philip; Cooper, Jackie A; Harrison, Seamus C; Li, KaWah; Drenos, Fotios; Karpe, Frederik; Neil, H Andrew W; Descamps, Olivier S; Langenberg, Claudia; Lench, Nicholas; Kivimaki, Mika; Whittaker, John; Hingorani, Aroon D; Kumari, Meena; Humphries, Steve E

Book ID
120242259
Publisher
The Lancet
Year
2013
Tongue
English
Weight
309 KB
Volume
381
Category
Article
ISSN
0140-6736

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Use of the single-strand conformational
Use of the single-strand conformational polymorphism method to detect recurrent and novel mutations in the low-density lipoprotein repeptor gene in patients with familial hypercholesterolaemia: detection of a novel mutation Asp200 ? Gly
โœ Gudnason, V. ;Mak, Y-T. ;Betteridge, J. ;McCarthy, S.N. ;Humphries, S. ๐Ÿ“‚ Article ๐Ÿ“… 1993 ๐Ÿ› Springer-Verlag ๐ŸŒ English โš– 962 KB

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