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Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol

✍ Scribed by C. Candini; A.W. Schimmel; J. Peter; A.E. Bochem; A.G. Holleboom; M. Vergeer; R.P.F. Dullaart; G.M. Dallinga-Thie; G.K. Hovingh; K.L. Khoo; T. Fasano; L. Bocchi; S. Calandra; J.A. Kuivenhoven; M.M. Motazacker


Book ID
118423269
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
377 KB
Volume
213
Category
Article
ISSN
0021-9150

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High prevalence of mutations in LCAT in
✍ Adriaan G. Holleboom; Jan A. Kuivenhoven; Frank Peelman; Alinda W. Schimmel; Jor πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 337 KB

Lecithin:cholesterol acyltransferase (LCAT) is crucial to the maturation of high-density lipoprotein (HDL). Homozygosity for LCAT mutations underlies rare disorders characterized by HDL-cholesterol (HDL-c) deficiency while heterozygotes have half normal HDL-c levels. We studied the prevalence of LCA