Erratum: Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients

Spectrum of low density lipoprotein rece

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients

✍ Viera Kuhrová; Hana Francová; Petra Zapletalová; Tomáš Freiberger; Lenka Fajkuso 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB

The aim of our study was to define mutations causing familial hypercholesterolemia (FH) phenotype in Czech hypercholesterolemic individuals. A combination of heteroduplex analysis, SSCP, DGGE, DNA sequencing and PCR/restriction analysis was used for this purpose. Molecular searching in the promoter

Spectrum of low density lipoprotein rece

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients

✍ Viera Kuhrová; Hana Francová; Petra Zapletalová; Tomáš Freiberger; Lenka Fajkuso 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB

The aim of our study was to define mutations causing familial hypercholesterolemia (FH) phenotype in Czech hypercholesterolemic individuals. A combination of heteroduplex analysis, SSCP, DGGE, DNA sequencing and PCR/restriction analysis was used for this purpose. Molecular searching in the promoter

Identification of three new mutations of

Identification of three new mutations of the low density lipoprotein receptor gene in Dutch familial hypercholesterolemic patients

✍ Dr. P. Lombardi; E.J.G. Sijbrands; S. Kamerling; A.H. Smelt; L.M. Havekes 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 409 KB 👁 1 views

Familial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid metabolism caused by mutations

Two novel and two known low-density lipo

Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia

✍ Rochelle Thiart; Odell Loubser; J. Nico P. de Villiers; Munro P. Marx; Reinhardt 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB 👁 1 views

Geographical clustering of low density l

Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus

✍ Stavroulla L. Xenophontos; Alkis Pierides; Kyproulla Demetriou; Panicos Avraamid 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB

In Cyprus, no data are yet available on the frequencies of clinically diagnosed FH patients. Further, until now, familial hypercholesterolaemia in Cyprus had not been studied at the molecular level to determine the nature or frequency of LDLR gene mutations. Being a relatively homogeneous population

Characterization and geographic distribu

Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece

✍ George Miltiadous; Moses Elisaf; Helen Bairaktari; Stavroulla L. Xenophontos; Pa 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 1 views

Familial Hypercholesterolaemia (FH) is a clinical syndrome characterised by elevated serum total cholesterol levels due to an increase in low density lipoprotein (LDL) cholesterol, by tendon xanthomata and clinical manifestations of ischaemic heart disease in early life. Typically, it results from m