Literature DB >> 12746413

Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy.

J Mogensen, A Bahl, T Kubo, N Elanko, R Taylor, W J McKenna.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12746413      PMCID： PMC1735481          DOI： 10.1136/jmg.40.5.e59

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  6 in total

1.  Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene.

Authors:  Sana Sfar; Abderrazak Abid; Wijden Mahfoudh; Houyem Ouragini; Farah Ouechtati; Sonia Abdelhak; Lotfi Chouchane
Journal:  Mol Biol Rep       Date:  2008-03-11       Impact factor: 2.316

2.  Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.

Authors:  Steve E Humphries; Treena Cranston; Marcus Allen; Helen Middleton-Price; Maryam C Fernandez; Victoria Senior; Emma Hawe; Andrew Iversen; Richard Wray; Martin A Crook; Anthony S Wierzbicki
Journal:  J Mol Med (Berl)       Date:  2005-12-31       Impact factor: 4.599

3.  Myocardial late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy caused by mutations in troponin I.

Authors:  J C Moon; J Mogensen; P M Elliott; G C Smith; A G Elkington; S K Prasad; D J Pennell; W J McKenna
Journal:  Heart       Date:  2005-08       Impact factor: 5.994

4.  Genotyping of macrophage migration inhibitory factor (MIF) CATT₅₋₈ repeat polymorphism by denaturing high-performance liquid chromatography (DHPLC).

Authors:  Michele Benigni; Stefania Battistini; Claudia Ricci
Journal:  Mol Biotechnol       Date:  2013-07       Impact factor: 2.695

5.  AKT1 polymorphisms are associated with risk for metabolic syndrome.

Authors:  Joseph M Devaney; Heather Gordish-Dressman; Brennan T Harmon; Margaret K Bradbury; Stephanie A Devaney; Tamara B Harris; Paul D Thompson; Priscilla M Clarkson; Thomas B Price; Theodore J Angelopoulos; Paul M Gordon; Niall M Moyna; Linda S Pesca; Paul S VIsich; Robert F Zoeller; Richard L Seip; Jinwook Seo; Bo Hyoung Kim; Laura L Tosi; Melissa Garcia; Rongling Li; Joseph M Zmuda; Matthew J Delmonico; Robert S Lindsay; Barbara V Howard; William E Kraus; Eric P Hoffman
Journal:  Hum Genet       Date:  2011-02       Impact factor: 4.132

Review 6.  Molecular approaches in the diagnosis of primary immunodeficiency diseases.

Authors:  Maurizio Costabile; Alex Quach; Antonio Ferrante
Journal:  Hum Mutat       Date:  2006-12       Impact factor: 4.878
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.