Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria

Authors
Waters, PJ Parniak, MA Akerman, BR Jones, AO Scriver, CR
Citation
Pj. Waters et al., Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria, J INH MET D, 22(3), 1999, pp. 208-212
Citations number
14
Categorie Soggetti
Endocrinology, Nutrition & Metabolism
Journal title
JOURNAL OF INHERITED METABOLIC DISEASE
ISSN journal
01418955 → ACNP
Volume
22
Issue
3
Year of publication
1999
Pages
208 - 212
Database
ISI
SICI code
0141-8955(199905)22:3<208:MMITPH>2.0.ZU;2-3