1.P.233 Molecular evidence of founder effect for four mutations in the low-density lipoprotein receptor gene in French Canadians with familial hypercholesterolemia
✍ Scribed by O. Couture; J. Morissette; D. Gaudet; M.-C. Vohl; C. Gagné; J. Bergeron; J.-P. Després; J. Simard
- Book ID
- 119437281
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 188 KB
- Volume
- 134
- Category
- Article
- ISSN
- 0021-9150
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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