Apports du génotypage dans la maladie de Fabry
- 1 December 2010
- journal article
- abstracts
- Published by Elsevier BV in La Revue de Médecine Interne
- Vol. 31, S275-S278
- https://doi.org/10.1016/s0248-8663(10)70027-8
Abstract
No abstract availableKeywords
This publication has 11 references indexed in Scilit:
- Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA)Molecular Genetics and Metabolism, 2008
- Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutationsHuman Genomics, 2006
- Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome SurveyActa Paediatrica, 2005
- Is globotriaosylceramide a useful biomarker in Fabry disease?Acta Paediatrica, 2005
- Deficient α-galactosidase A activity in plasma but no Fabry disease – a pitfall in diagnosiscclm, 2005
- Fabry disease: Characterization of ?-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency alleleHuman Mutation, 2003
- Fabry disease: D313Y is an α-galactosidase A sequence variant that causes pseudodeficient activity in plasmaMolecular Genetics and Metabolism, 2003
- A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.JCI Insight, 1996
- Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.JCI Insight, 1989
- Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.Proceedings of the National Academy of Sciences of the United States of America, 1988