𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Expression and functional characterization of the extracellular domain II of the LDL receptor related protein

✍ Scribed by E. Schlemmer; M.M. Hoffmann; H. Scharnagl; G. Neuhaus; H. Wieland; W. März


Book ID
119439225
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
156 KB
Volume
144
Category
Article
ISSN
0021-9150

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Functional characterization of splicing
✍ Aitor Etxebarria; Lourdes Palacios; Marianne Stef; Diego Tejedor; Kepa B. Uribe; 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 569 KB

Familial hypercholesterolemia (FH) is an autosomal dominant disorder mostly caused by mutations in the LDLR gene. Although the detection of functional mutations in the LDLR gene provides an unequivocal diagnosis of the FH condition, there are many variants whose pathogenicity is still unknown. The a