title: Nonsense mutation in exon 2 of the alpha-galactosidase A gene in a patient with Fabry disease.
authors.affiliation: Clinica Dermatologica, Università di Pisa, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Manni
authors.forename: A
authors.initials: A
authors.lastname: Fogli
authors.forename: F
authors.initials: F
authors.lastname: Baldinotti
authors.forename: S
authors.initials: S
authors.lastname: Rossi
authors.forename: N
authors.initials: N
authors.lastname: Funel
authors.forename: P
authors.initials: P
authors.lastname: Barachini
authors.forename: P
authors.initials: P
authors.lastname: Simi
mesh_terms: D000293:Adolescent; D018389:Codon, Nonsense; D005091:Exons; D000795:Fabry Disease / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D000519:alpha-Galactosidase