Gene symbol: AGXT. Disease: primary hyperoxaluria type I.
Amoroso
A
A
Servizio di genetica medica, Istituto per l'infanzia burlo garofolo, Trieste, Italy.
Pirulli
D
D
Puzzer
D
D
Ferri
L
L
Crovella
S
S
Ferrettini
C
C
Marangella
M
M
Mazzola
G
G
Florian
F
F
D019943:Amino Acid Substitution; D001483:Base Sequence; D004251:DNA Transposable Elements; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000145:classification / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D017384:Sequence Deletion
D004251:DNA Transposable Elements