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120 Clinical and genetic diagnosis of familial hypercholesterolemia in young subjects in Spain

✍ Scribed by J.T. Real; O. Puig; J. Chaves; M. Garcia-Sogo; A. Priego; J.F. Ascaso; R. Carmena; M. Armengod

Book ID
119436959
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
156 KB
Volume
130
Category
Article
ISSN
0021-9150

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Familial hypercholesterolemia (FH) is a dominant disorder due to mutations in the LDLR gene. Several mutations in the LDLR promoter are associated with FH. Screening of 3,705 Spanish FH patients identified 10 variants in the promoter and 5 0 UTR. Here, we analyse the functionality of six newly ident

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Objectives: To describe a process of diagnosing familial hypercholesterolemia (FH) at the DNA level in selected family members of affected individuals. ## Design and Methods: A 63-year-old male patient presented with cholesterol elevations consistent with heterozygous familial hypercholesterolemi