New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: Molecular and functional analysis

By Francová H.   Trbušek M.   Zapletalová P.   Kuhrová V.  

Journal of Inherited Metabolic Disease, Vol. 27, Iss. 4, 2004-07 ,pp. : 523-528

Springer Publishing Company

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Plant sterols lower LDL cholesterol without improving endothelial function in prepubertal children with familial hypercholesterolaemia

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Heterozygous familial hypercholesterolaemia in childhood: Cardiovascular risk prevention

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Mutations of the endothelin-B receptor and endothelin-3 genes in Hirschsprung's disease

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HSD10 disease: clinical consequences of mutations in the HSD17B10 gene

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