p.G360R is a pathogenic GLA gene mutation responsible for a classic phenotype of Fabry disease

The authors report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. Genetic analysis revealed 2 GLA-gene variants, i.e., p.R356Q and p.G360R. This clinical case highlights that the finding of 2 or more GLA gene va...

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Detalhes bibliográficos
Autor principal: Carvalho Silva, Daniela (author)
Outros Autores: Marques, Nuno (author), Azevedo, Olga (author), Miltenberger-Miltenyi, Gabriel (author), Bento, Dina (author), Guedes, Joao (author), Azevedo, Pedro (author), Bispo, Joao (author), Mota, Teresa (author), Fernandes, Raquel (author), Nzwalo, Hipólito (author), Cabrita, Ana (author), Ramos, André (author), de Jesus, Ilidio (author)
Formato: article
Idioma:eng
Publicado em: 2020
Assuntos:
Cardiovascular magnetic-resonance
Left-ventricular hypertrophy
Alpha galactosidase
Replacement therapy
Identification
Variants
Fabry disease
Classic phenotype
Missense mutation
GLA gene
p.G360R
Texto completo:http://hdl.handle.net/10400.1/14155
País:Portugal
Oai:oai:sapientia.ualg.pt:10400.1/14155

Texto Completo

http://hdl.handle.net/10400.1/14155

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