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Article

The p.Arg118Cys Variant in the GLA Gene Does Not Cause Fabry Disease. More Evidence.

Revista espanola de cardiologia (English ed.) - 1 Oct 2018

Barbeito-Caamaño Cayetana, Cao-Vilariño Mercedes, Mosquera-Reboredo Juan, García-Pavía Pablo, Monserrat-Iglesias Lorenzo, Barriales-Villa Roberto

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Identifiers

PMID: 28941980
DOI: 10.1016/j.rec.2017.08.007

Genes

GLA

Variants

Provenance

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Related research

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Research trail→

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The p.Arg118Cys Variant in the GLA Gene Does Not Cause Fabry Disease. More Evidence.PMID 28941980Read ↗

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

A novel genetic variant in the NM_000169.2 region of the GLA gene (p.Gly163*) responsible for Fabry disease.Semantic proximity Read ↗

The c.-265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified.Semantic proximity Read ↗

Is standard GLA gene mutation analysis definitive for the diagnosis of Fabry disease?Semantic proximity Read ↗

The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.Semantic proximity Read ↗

Molecular and clinical studies in five index cases with novel mutations in the GLA gene.Semantic proximity Read ↗

[A case of Fabry disease in a family with GLA gene c.92C>A mutation].Semantic proximity Read ↗

First Reported Case of Fabry Disease Caused by a Somatic Mosaicism in the GLA Gene.Semantic proximity Read ↗

Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.Semantic proximity Read ↗

New mutations in the GLA gene in Brazilian families with Fabry disease.Semantic proximity Read ↗

Fabry disease: 20 novel GLA mutations in 35 families.Semantic proximity Read ↗

Novel GLA T194A variant causes Fabry disease.Semantic proximity Read ↗

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