PAH
NM_000277.3:p.G257C
Giannattasio S et al.
Human Heredity, 2001
Rottoli A et al.
Journal of Medical Screening, 1999
Guzzetta V et al.
Journal of Inherited Metabolic Disease, 1997
Scriver CR
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1994