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Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia.
Clin Genet. 2000 Aug;58(2):98-105. doi: 10.1034/j.1399-0004.2000.580202.x.
Clin Genet. 2000.
PMID: 11005141
Identification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia.
van de Kerkhof L, Van Eijk SJ, Defesche JC, Dos-Santos JE.
van de Kerkhof L, et al.
Genet Test. 2003 Spring;7(1):77-9. doi: 10.1089/109065703321560994.
Genet Test. 2003.
PMID: 12820708
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A DNA microarray for the detection of point mutations and copy number variation causing familial hypercholesterolemia in Europe.
Stef MA, Palacios L, Olano-Martín E, Foe-A-Man C, van de Kerkhof L, Klaaijsen LN, Molano A, Schuurman EJ, Tejedor D, Defesche JC.
Stef MA, et al. Among authors: van de kerkhof l.
J Mol Diagn. 2013 May;15(3):362-72. doi: 10.1016/j.jmoldx.2013.01.005. Epub 2013 Mar 26.
J Mol Diagn. 2013.
PMID: 23537714
Free article.
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Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia.
Reeskamp LF, Balvers M, Peter J, van de Kerkhof L, Klaaijsen LN, Motazacker MM, Grefhorst A, van Riel NAW, Hovingh GK, Defesche JC, Zuurbier L.
Reeskamp LF, et al. Among authors: van de kerkhof l.
Atherosclerosis. 2021 Mar;321:14-20. doi: 10.1016/j.atherosclerosis.2021.02.003. Epub 2021 Feb 8.
Atherosclerosis. 2021.
PMID: 33601267
Free article.
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