Associated Papers
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.
Heath KE et al.
European Journal of Human Genetics : Ejhg, 2001
The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia.
Heath KE et al.
Atherosclerosis, 1999
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