A quantitative-PCR protocol rapidly detects αGAL deletions/duplications in patients with Anderson-Fabry disease

Molecular Genetics and Metabolism
Nicola MarzilianoMariano Intrieri

Abstract

The Anderson-Fabry disease (AFD) is an X-linked glycosphingolipidosis leading to a progressive systemic disease. A particular variant of the disease of AFD presents only with left ventricular hypertrophy (LVH). Molecular diagnosis with bidirectional sequencing fails to detect genomic re-arrangements in female patients because of the presence of the wt allele. We here propose a quantitative PCR-based method alternative/complementary to the MLPA.

References

Nov 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·D H CalhounR J Desnick
May 25, 1967·The New England Journal of Medicine·R O BradyL Laster
Jul 7, 2001·The New England Journal of Medicine·C M EngUNKNOWN International Collaborative Fabry Disease Study Group
Dec 25, 2007·Journal of the American College of Cardiology·Lorenzo MonserratJesús Egido
May 13, 2008·Molecular Genetics and Metabolism·Annalisa SchirinziElena Ranieri
Jun 13, 2008·Nature Protocols·Thomas D Schmittgen, Kenneth J Livak
Dec 19, 2008·Cardiology in Review·Bredy Pierre-LouisWilliam H Frishman
Mar 26, 2009·Pharmacology & Therapeutics·Raphael Schiffmann
Aug 4, 2011·European Journal of Echocardiography : the Journal of the Working Group on Echocardiography of the European Society of Cardiology·José ZamoranoGuillem Pintos

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Citations

Nov 17, 2015·Expert Review of Molecular Diagnostics·Roberto GiuglianiUrsula Matte

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