Spectrum of mutations in LDL receptor gene 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

Erratum: Spectrum of low density lipopro

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

✍ Viera Kuhrová; Hana Francová; Petra Zapletalová; Tomáš Freiberger; Lenka Fajkuso 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 128 KB 👁 1 views

51 Novel mutations in the LDL receptor g

51 Novel mutations in the LDL receptor gene of Dutch familial hypercholesterolemic patients

✍ M.Paola Lombardi; Joep C. Defesche; Sylvia W.A. Kamerling; Egbert Redeker; John 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 150 KB

36 Heterogeneity of LDL receptor mutatio

36 Heterogeneity of LDL receptor mutations in dutch familial hypercholesterolemic patients

✍ Joep C. Defesche; M.Paola Lombardi; Sylvia W.A. Kamerling; Louis M. Havekes; Joh 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 165 KB

Spectrum of LDL receptor gene mutations

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia

✍ INM Day; RA Whittall; SD O'Dell; L Haddad; MK Bolla; V Gudnason; SE Humphries 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 409 KB 👁 2 views

Communicated by Alec J. Jeffreys Familial hypercholesterolemia by usual definition reflects mutations of the LDL-receptor gene. Extensive molecular characterization of mutations ascertained mainly through homozygotes (the Dallas collection) has been presented by Hobbs et al. (Hum Mutat 1:445-466, 19