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LDL receptor gene polymorphism in the diagnosis of familial hypercholesterolemia (FH)

✍ Scribed by F.J. Chaves; O. Puig; J. Real; M. Garcia´-Sogo; J.V. Gil; J.F. Ascaso; M.E. Armengod; R. Carmena

Book ID
118325503
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
158 KB
Volume
109
Category
Article
ISSN
0021-9150

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✍ A. Daga; T. Mattioni; R. Balestreri; D. A. Coviello; G. Corte; S. Bertolini 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 510 KB

Familial hypercholesterolemia (FH) is an autosomal dominant metabolic disorder caused by several different mutations in the low density lipoprotein (LDL) receptor gene. This large number of different mutations, often undetectable in Southern blotting, makes it impossible directly to diagnose the dis