Phenylketonuria splice mutation (EXON6nt-96A-->g) masquerading as missense mutation (Y204C).
Ellingsen
S
S
Department of Medical Genetics, Haukeland Hospital, University of Bergen, Norway.
Knappskog
P M
PM
Eiken
H G
HG
D005091:Exons; D006801:Humans; D009154:Mutation; D010661:Phenylketonurias / Q000235:genetics*; D012326:RNA Splicing