Gene symbol: SLC3A1. Disease: cystinuria.
Nunes
V
V
Centre de Genètica Mèdica i Molecular (IRO), Hospital Duran i Reynals, Autovía de Castelldefels Km 2.7, L'Hospitalet de Llobregat, Barcelona, Spain. vnunes@iro.es
Font-Llitjós
M
M
Jiménez-Vidal
M
M
Bisceglia
L
L
Di Perna
M
M
de Sanctis
L
L
Rousad
F
F
Zelante
L
L
Palacín
M
M
D026923:Amino Acid Transport Systems, Basic / Q000235:genetics*; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics*; D018389:Codon, Nonsense; D003555:Cystinuria / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense
D026923:Amino Acid Transport Systems, Basic; D026921:Amino Acid Transport Systems, Neutral; D018389:Codon, Nonsense; C489857:SLC3A1 protein, human