The J. D. mutation in familial hypercholesterolemia: Amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors
Claire Davis
,
Mark A. Lehrman
,
David W. Russell
,
Claire Davis
,
Mark A. Lehrman
,
David W. Russell
,
Richard G.W. Anderson
,
Michael S. Brown
,
Joseph L. Goldstein
1986
Cell
375 citations