title: Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
authors.affiliation: Genética, Faculdade de Medicina, Universidade do Porto, Alameda Hernãni Monteiro, FMUP, Porto, Portugal. susanadg@med.up.pt
authors.forename: Susana
authors.initials: S
authors.lastname: Ferreira
authors.forename: Carmen
authors.initials: C
authors.lastname: Valbuena
authors.forename: Filipa
authors.initials: F
authors.lastname: Carvalho
authors.forename: João Paulo
authors.initials: JP
authors.lastname: Oliveira
mesh_terms: D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D005091:Exons; D000795:Fabry Disease / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009711:Nucleotides / Q000235:genetics*; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D003062:Codon; D009711:Nucleotides; D000519:alpha-Galactosidase