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W14.379 Novel LDL-receptor gene mutations in Russian patients with familial hypercholesterolaemia

✍ Scribed by Meshkov, A.; Stambolsky, D.; Kukharchuk, V.; Malyshev, P.


Book ID
118632773
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
150 KB
Volume
5
Category
Article
ISSN
1567-5688

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We used the single strand conformation polymorphism (SSCP) method to investigate 13 apparently unrelated Spanish patients with familial hypercholesterolemia (FH) for mutations in the promoter region and the 18 exons and their flanking intron sequences of the low density lipoprotein (LDL) receptor ge