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Screening of point mutations in the LDL-receptor gene in Spanish patients with familial hypercholesterolemia

✍ Scribed by Vallvé, J.C.; Uliaque, K.; El Mesal, M.; Ribalta, J.; Ait Chihab, K.; Olivé, S.; Pérez-Jiménez, F.; Pedro-Botet, J.C.; Ros, E.; Masana, L.


Book ID
118630228
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
185 KB
Volume
2
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