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A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects

✍ Scribed by Hilde Sundvold; Kari Solberg; Serena Tonstad; Olaug K. Rødningen; Leiv Ose; Kåre Berg; Trond P. Leren


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
166 KB
Volume
7
Category
Article
ISSN
1059-7794

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We used the single strand conformation polymorphism (SSCP) method to investigate 36 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 receptor (LDLR) g