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Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum

More than 1700 mutations in the low density lipoprotein receptor (LDLR) gene have been found to cause familial hypercholesterolemia (FH). These are commonly divided into five classes based upon their effects on the structure and function of the LDLR. However, little is known about the mechanism by w...

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Hlavní autoři: Strøm, Thea Bismo, Tveten, Kristian, Laerdahl, Jon K., Leren, Trond P.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2014
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4048843/
https://ncbi.nlm.nih.gov/pubmed/24918045
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.fob.2014.03.007
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