Mutation detection in Croatian patients with Familial Hypercholesterolemia
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Title
Mutation detection in Croatian patients with Familial Hypercholesterolemia
Authors
Keywords
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Journal
ANNALS OF HUMAN GENETICS
Volume 77, Issue 1, Pages 22-30
Publisher
Wiley
Online
2012-11-07
DOI
10.1111/j.1469-1809.2012.00735.x
References
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Related references
Note: Only part of the references are listed.- Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment
- (2012) Ebele Usifo et al. ANNALS OF HUMAN GENETICS
- An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia
- (2011) Lucie Dušková et al. ATHEROSCLEROSIS
- Management of familial hypercholesterolemia in children and young adults: Consensus paper developed by a panel of lipidologists, cardiologists, paediatricians, nutritionists, gastroenterologists, general practitioners and a patient organization
- (2011) O.S. Descamps et al. ATHEROSCLEROSIS
- Editor in Chief's Report for Atherosclerosis for 2011
- (2011) Steve E. Humphries ATHEROSCLEROSIS
- Molecular characterization of familial hypercholesterolemia in Spain
- (2011) Lourdes Palacios et al. ATHEROSCLEROSIS
- Familial hypercholesterolaemia: A model of care for Australasia
- (2011) Gerald F. Watts et al. ATHEROSCLEROSIS SUPPLEMENTS
- Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece
- (2011) Maria Diakou et al. European Journal of Internal Medicine
- Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients
- (2011) Anne C. Goldberg et al. Journal of Clinical Lipidology
- 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
- Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of theLDLRgene in patients with familial hypercholesterolaemia
- (2009) A Taylor et al. CLINICAL GENETICS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- APOE, CETP and LPL genes show strong association with lipid levels in Greek children
- (2009) M.C. Smart et al. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES
- 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
- Diagnosis of Familial Hypercholesterolemia in General Practice Using Clinical Diagnostic Criteria or Genetic Testing as Part of Cascade Genetic Screening
- (2008) Trond P. Leren et al. Public Health Genomics
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