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Identification of a novel mutation in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families

✍ Scribed by Ana Cenarro; Henrik K. Jensen; Elena Casao; Fernando Civeira; José Gonzàlez-Bonillo; Miguel Pocoví; Niels Gregersen

Book ID: 116160007
Publisher: Elsevier Science
Year: 1996
Tongue: English
Weight: 369 KB
Volume: 1316
Category: Article
ISSN: 0925-4439
DOI: 10.1016/0925-4439(96)00006-3

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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