Gene symbol: SLC3A1. Disease: Cystinuria.
Centre de Genetica Medica i Molecular (IRO), Hospital Duran i Reynals, Barcelona, Spain. vnunes@iro.es
V
V
Nunes
Mariona
M
Font-Llitjos
Maite
M
Jimenez-Vidal
Luigi
L
Bisceglia
Michele
M
Di Perna
Luisa
L
de Sanctis
Ferran
F
Rousaud
Leopoldo
L
Zelante
Manuel
M
Palacin
Virginia
V
Nunes
D019943:Amino Acid Substitution; D003555:Cystinuria / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense