Associated Papers
Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review.
Ferch M et al.
European Journal of Preventive Cardiology, 2025
39535057 (PubMed )
Supplement: zwae331_supplementary_data.docx
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.pdf
Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
Whittall RA et al.
Annals of Clinical Biochemistry, 2010
Mutation screening in patients for familial hypercholesterolaemia (ADH).
Taylor A et al.
Clinical Genetics, 2010
Evaluation of high-resolution melting analysis for screening the LDL receptor gene.
Laurie AD et al.
Clinical Biochemistry, 2009
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