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Article

Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease.

Clinica chimica acta; international journal of clinical chemistry - 15 Jan 2016

Ferri Lorenzo, Cavicchi Catia, Fiumara Agata, Parini Rossella, Guerrini Renzo, Morrone Amelia

Abstract excerpt

MLPA (Multiplex Ligation-dependent Probe Amplification) is a semiquantitative molecular technique developed to uncover gross gene rearrangements in several monogenic diseases, including the X-linked Fabry disease (FD) caused by mutations in the GLA gene. Heterozygosity of the X chromosome in females makes it important to combine routine sequencing analysis with at least one allelic dosage assay (i.e. MLPA). We...

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Identifiers

PMID: 26528637
DOI: 10.1016/j.cca.2015.10.027

Genes

GLA

Variants

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