Article
Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene.
Journal of applied genetics - 1 Jan 2008
Kubalska Jolanta, Chmara Magdalena, Limon Janusz, Wierzbicka Aldona, Prokurat Sylwester, Szaplyko Janina, Kowalik Agnieszka, Mierzewska Hanna, Defesche Joep C, Pronicka Ewa
Abstract excerpt
Natural history of the disease in 4 unrelated Polish children with homozygous familial hypercholesterolemia (FH) is described. Their phenotypic homozygosity was established by identification of known LDLR gene mutations on both alleles, respectively: p.G592E & p.G592E in Patient 1; p.G592E & p.C667Y in Patient 2; p.S177L & p.R350X in Patient 3; and p.G592E & deletion in the promoter region, exons 1 and 2 in...
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