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