1996•Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseaseOpen access

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

Ana Cenarro, Henrik Kjærulf Jensen, E. Casao, Fernando Civeira, José González‐Bonillo, Miguel Pocovı́, Niels Gregersen

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Key concepts: Familial hypercholesterolemia, Exon, Genetics, Identification (biology), Mutation, Gene, Biology, LDL receptor

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Identification of a novel mutation in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families — Research Paper | ScholarLens