𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of aVPS13Afounder mutation in French Canadian families with chorea-acanthocytosis

✍ Scribed by Carol Dobson-Stone; Antonio Velayos-Baeza; An Jansen; Frederick Andermann; François Dubeau; Francine Robert; Anne Summers; Anthony E. Lang; Sylvain Chouinard; Adrian Danek; Eva Andermann; Anthony P. Monaco

Book ID
106257130
Publisher
Springer
Year
2005
Tongue
English
Weight
229 KB
Volume
6
Category
Article
ISSN
1364-6745

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Low density lipoprotein receptor (LDLR)
Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent
✍ Jian Wang; Erin Huff; Lenny Janecka; Robert A. Hegele 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 1 views

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