Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency.
Parvaneh
Nima
N
Teimourian
Shahram
S
Jacomelli
Gabriella
G
Badalzadeh
Mohsen
M
Bertelli
Matteo
M
Zakharova
Ekaterina
E
Tabatabaei
Parviz
P
Parvaneh
Leila
L
Pourakbari
Babak
B
Yeganeh
Mehdi
M
Tamizifar
Banafshe
B
Mamishi
Setareh
S
Micheli
Vanna
V
D000619:Aminohydrolases / Q000235:genetics; D002648:Child; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency* / Q000235:genetics*
D011683:Purine-Nucleoside Phosphorylase; D000619:Aminohydrolases; C018774:adenine deaminase