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Article

Simple and efficient screening of patients with Fabry disease with high resolution melting.

Clinical biochemistry - 1 Mar 2018

Pasqualim Gabriela, Dos Santos Bruna Almeida, Giugliani Roberto, Matte Ursula

Abstract excerpt

BACKGROUND: Fabry disease (FD [MIM: 301500]) is a disorder caused by mutations in the alpha-galactosidase gene (GLA), which presents great allelic heterogeneity. The development of fast screening methods may reduce costs and length of diagnosis, being particularly important for screening programs of high-risk female patients. Therefore, the purpose of this study was to develop a pre-sequencing genetic screening...

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Source

Identifiers

PMID: 29305833
DOI: 10.1016/j.clinbiochem.2018.01.002

Genes

GLA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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