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Analysis of mutations in the LDLR gene in spanish patients with familial hypercholesterolemia by SSCP

โœ Scribed by Mozas, P.; Cenarro, A.; Castillo, S.; Reyes, G.; Civeira, F.; Alonso, R.; Mata, P.; Pocovi, M.


Book ID
123585690
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
144 KB
Volume
151
Category
Article
ISSN
0021-9150

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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