Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrentLDLR mutations

Autosomal dominant hypercholesterolemia (ADH) is caused by mutations in the genes coding for the low-density lipoprotein receptor ( LDLR ), apolipoprotein B-100 ( APOB ), or proprotein convertase subtilisin/kexin type 9 ( PCSK9 ). In this study, a molecular analysis of LDLR and APOB was performed in...

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Veröffentlicht in:	Journal of applied genetics 2010-03, Vol.51 (1), p.95-106
Hauptverfasser:	Chmara, M., Wasąg, B., Żuk, M., Kubalska, J., Węgrzyn, A., Bednarska-Makaruk, M., Pronicka, E., Wehr, H., Defesche, J. C., Rynkiewicz, A., Limon, J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Animal Genetics and Genomics Biomedical and Life Sciences Human Genetics Life Sciences Microbial Genetics and Genomics Original Article Plant Genetics and Genomics
Online-Zugang:	Volltext
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