Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH.
Garcia CK, et al. Among authors: cohen jc.
Science. 2001 May 18;292(5520):1394-8. doi: 10.1126/science.1060458. Epub 2001 Apr 26.
Science. 2001.
PMID: 11326085