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Article

Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA)

10 May 2008

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 18472290
DOI: 10.1016/j.ymgme.2008.03.017

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Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA)PMID 18472290Read ↗

p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease.Semantic proximity Read ↗

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Thirty-four novel mutations of the GLA gene in 121 patients with Fabry diseaseSemantic proximity Read ↗

Identification of mutations in Colombian patients affected with Fabry disease.Semantic proximity Read ↗

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Mutational analysis of the GLA gene in Mexican families with Fabry disease.Semantic proximity Read ↗

Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.Semantic proximity Read ↗

Detection of Single Nucleotide and Copy Number Variants in the Fabry Disease-associated GLA Gene Using Nanopore SequencingSemantic proximity Read ↗

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing.Semantic proximity Read ↗

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