Article
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.
Human mutation - 1 Nov 2001
García-García A B, Real J T, Puig O, Cebolla E, Marín-García P, Martínez Ferrandis J I, García-Sogo M, Civera M, Ascaso J F, Carmena R, Armengod M E, Chaves F J
Abstract excerpt
Mutations underlying FH in Spain are largely unknown because only a few and limited surveys have been carried out on Spanish FH patients up to now. To gain information on this issue, we have analysed a group of 113 unrelated Spanish FH patients from an eastern area of Spain (Valencian Community). We have screened the LDLR gene by Southern blot and PCR-SSCP analysis to detect large rearrangements and small...
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