✦ LIBER ✦

The molecular basis of familial hypercholesterolemia in The Netherlands

✍ Scribed by Sigrid W. Fouchier; Joep C. Defesche; Marina A. Umans-Eckenhausen; John J. Kastelein

Publisher: Springer
Year: 2001
Tongue: English
Weight: 97 KB
Volume: 109
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-001-0628-8

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Update of the molecular basis of familia

Update of the molecular basis of familial hypercholesterolemia in The Netherlands

✍ Sigrid W. Fouchier; John J.P. Kastelein; Joep C. Defesche 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 144 KB 👁 1 views

Autosomal-dominant hypercholesterolemia (ADH) has been identified as a major risk factor for coronary vascular disease (CVD) and is associated with mutations in the low-density lipoprotein receptor (LDLR) and the apolipoprotein B (APOB) gene. Since 1991 DNA samples from clinically diagnosed ADH pati

Molecular basis of familial hypercholest

Molecular basis of familial hypercholesterolemia: An Indian experience

✍ T. F. Ashavaid; A. K. Altaf; K. G. Nair 📂 Article 📅 2000 🏛 Association of Clinical Biochemistry of India 🌐 English ⚖ 761 KB

Molecular genetics of familial hyperchol

Molecular genetics of familial hypercholesterolemia in Israel

✍ Ayeleth Reshef; Henrik Nissen; Liat Triger; Torben Stiig Hensen; Osnat Eliav; Da 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 86 KB

Molecular basis of familial hypercholest

Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations

✍ Luis A. Salazar; Mario H. Hirata; Selma A. Cavalli; Edna R. Nakandakare; Neusa F 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 150 KB 👁 1 views

## Communicated by Mark H. Paalman Low-density lipoprotein receptor (LDLR) gene mutations cause familial hypercholesterolemia (FH), one of the most common single gene disorders. The spectrum of LDLR mutations in Brazil is not known. The aim of this study was the characterization of LDLR mutations

Molecular characterization of familial h

Molecular characterization of familial hypercholesterolemia in German and Greek patients

✍ George V. Z. Dedoussis; Janine Genschel; Bettina Bochow; Christos Pitsavos; John 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 42 KB 👁 1 views

We used the denaturing gradient gel electrophoresis (DGGE) method to define mutations in the promoter region, the 18 exons, and their flanking intronic sequences of the low-density lipoprotein (LDL) receptor gene LDLR, causing familial hypercholesterolemia (FH) phenotype in 100 German and in 100 Gre

The molecular basis of familial hypercho

The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene

✍ Marianne Abifadel; Jean-Pierre Rabès; Sélim Jambart; Georges Halaby; Marie-Hélèn 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 158 KB 👁 1 views

Autosomal dominant hypercholesterolemia (ADH), a major risk for coronary heart disease, is associated with mutations in the genes encoding the low-density lipoproteins receptor (LDLR), its ligand apolipoprotein B (APOB) or PCSK9 (Proprotein Convertase Subtilin Kexin 9). Familial hypercholesterolemia