@article{article5bfd625d,
title   = {Identification of a new mutation, S350C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia},
author = {Van de Kerkhof, Laura and Van Eijk, Silvia J. and Defesche, Joep C and Santos, José Ernesto dos},
year = {2003},
journal   = {Genetic Testig}
}