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
Geographic distribution of French-Canadian low-density lipoprotein receptor gene mutations in the Province of Quebec
✍ Scribed by Marie-Claude Vohl; Sital Moorjan; Madeleine Roy; Daniel Gaudet; Ana Lucia Torres; Ann Minnich; Claude Gagné; Gérald Tremblay; Marie Lambert; Jean Bergeron; Patrick Couture; Patrice Perron; Shirley Blaichman; Louis-Daniel Brun; Jean Davignon; Paul J. Lupien; Jean-Pierre Després
- Book ID
- 110887648
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 566 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0009-9163
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Mutations in the lipoprotein lipase (LPL) gene, leading to partial or total inactivation of the enzyme, result in a hereditary clinical syndrome called familial LPL deficiency. The French Canadian population, which is primarily and historically located in the province of Québec, has the highest worl
Heterozygous familial hypercholesterolemia (FH) is a relatively common autosomal dominant disorder, which is characterized by elevated plasma concentrations of low density lipoprotein (LDL) cholesterol and early coronary heart disease. FH results from mutations in the gene encoding the LDL receptor
## Communicated by Lnp.chee Tsui Familial hypercholesterolemia (FH) has an estimated frequency of 1:154 among French Canadians in Northeastern Quebec, compared with 1:500 in most other populations. FH is caused by numerous mutations of the low-density lipoprotein (LDL) receptor gene, but only six