Evidence of non-deficient low-density lipoprotein receptor patients in a pool of subjects with clinical familial hypercholesterolemia profile
β Scribed by S. Lestavel-Delattre; S. Benhamamouch; G. Agnani; G. Luc; J.M. Bard; T. Brousseau; C. Billardon; J.P. Kusnierz; J.L. De Gennes; J.C. Fruchart; V. Clavey
- Book ID
- 116030994
- Publisher
- Elsevier Science
- Year
- 1994
- Tongue
- English
- Weight
- 679 KB
- Volume
- 43
- Category
- Article
- ISSN
- 1532-8600
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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
During a survey of the mutations of the low density lipoprotein receptor (LDL-R) gene in Italian patients with familial hypercholesterolemia (FH), we identified a novel point mutation, that creates a new EcoRI site at the 5" end of exon 7, in a heterozygous FH subject (FH-100). The sequence of a cDN