Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria.
Waters
P J
PJ
deBelle Laboratory, McGill University-Montreal Children's Hospital Research Institute, Quebec, Canada. MC77@musica.mcgill.ca
Parniak
M A
MA
Akerman
B R
BR
Jones
A O
AO
Scriver
C R
CR
D006801:Humans; D020125:Mutation, Missense; D010651:Phenylalanine Hydroxylase / Q000235:genetics* / Q000378:metabolism; D010661:Phenylketonurias / Q000201:enzymology*
D010651:Phenylalanine Hydroxylase