Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients.
de Sanctis
L
L
Istituto di Clinica Pediatrica e Ospedale Infantile Regina Margherita, Turin, Italy.
Bruno
M
M
Bonetti
G
G
Cosseddu
D
D
Bisceglia
L
L
Ponzone
A
A
Dianzani
I
I
D001483:Base Sequence; D003555:Cystinuria / Q000235:genetics*; D004247:DNA / Q000737:chemistry; D006801:Humans; D007558:Italy; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction
D004247:DNA