𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Prevalence of familial hypercholesterolemia in Johannesburg Jews

✍ Scribed by Seftel, Harry C. ;Baker, Sheila G. ;Jenkins, Trefor ;Mendelsohn, Dennis


Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
317 KB
Volume
34
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Prevalence of Lithuanian mutation among
✍ Mikhail Mandelshtam; Khalid Chakir; Sergei Shevtsov; Valery Golubkov; Natalya Sk πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 184 KB

We used polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis to detect LDL receptor gene defects in the St. Petersburg population. We have found a deltaG197 mutation in several patients of Jewish origin. The mutation named is shown to be responsible for onethird (7/2

Spectrum of LDL receptor gene mutations
✍ INM Day; RA Whittall; SD O'Dell; L Haddad; MK Bolla; V Gudnason; SE Humphries πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 409 KB πŸ‘ 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

Molecular characterization of familial h
✍ George V. Z. Dedoussis; Janine Genschel; Bettina Bochow; Christos Pitsavos; John πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 42 KB πŸ‘ 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

LDL receptor cDNA sequence analysis in f
✍ Rosario Liguori; Anna Monica Bianco; Anagnostis Argiriou; Paolo Pauciullo; Aless πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 25 KB πŸ‘ 1 views

We screened a group of patients from southern Italy with clinically diagnosed familial hypercholesterolemia (FH) for mutations of the LDL receptor (LDLR) gene. RNA from each proband was analysed by RT-PCR followed by complete cDNA sequencing. Among 51 unrelated FH families we detected 17 mutations a

Prevalence of familial pancreatic cancer
✍ Detlef K. Bartsch; Ralf Kress; Mercedes Sina-Frey; Robert GrΓΌtzmann; Berthold Ge πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 French βš– 78 KB πŸ‘ 1 views

## Abstract Based on several case‐control studies, it has been estimated that familial aggregation and genetic susceptibility play a role in up to 10% of patients with pancreatic cancer, although conclusive epidemiologic data are still lacking. Therefore, we evaluated the prevalence of familial pan

Update of the molecular basis of familia
✍ Sigrid W. Fouchier; John J.P. Kastelein; Joep C. Defesche πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 144 KB πŸ‘ 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