Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment

Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29 365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants

(2012) Roeland Huijgen et al.   EUROPEAN HEART JOURNAL

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Understanding the contribution of synonymous mutations to human disease

(2011) Zuben E. Sauna et al.   NATURE REVIEWS GENETICS

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

(2010) Hanka Venselaar et al.   BMC BIOINFORMATICS

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

(2010) M. Chmara et al.   JOURNAL OF APPLIED GENETICS

Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site

(2010) Mari Ann Kulseth et al.   JOURNAL OF HUMAN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

(2009) A. M. Waterhouse et al.   BIOINFORMATICS

Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing

(2009) JC Defesche et al.   CLINICAL GENETICS

Mutation screening in patients for familial hypercholesterolaemia (ADH)

(2009) A Taylor et al.   CLINICAL GENETICS

The SAAPdb web resource: A large-scale structural analysis of mutant proteins

(2009) Jacob M. Hurst et al.   HUMAN MUTATION

Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations

(2009) M Bourbon et al.   JOURNAL OF MEDICAL GENETICS

Gene3D: merging structure and function for a Thousand genomes

(2009) Jonathan Lees et al.   NUCLEIC ACIDS RESEARCH

Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients

(2009) R A Whittall et al.   ANNALS OF CLINICAL BIOCHEMISTRY

Update and Analysis of the University College London Low Density Lipoprotein Receptor Familial Hypercholesterolemia Database

(2008) S. E. A. Leigh et al.   ANNALS OF HUMAN GENETICS

Recent developments in the MAFFT multiple sequence alignment program

(2008) K. Katoh et al.   BRIEFINGS IN BIOINFORMATICS

The CATH classification revisited--architectures reviewed and new ways to characterize structural divergence in superfamilies

(2008) A. L. Cuff et al.   NUCLEIC ACIDS RESEARCH