Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes

European Journal of Human Genetics

Volumn 4, Issue 5, 1996, Pages 296-300

  Lilleväli, Hardo ^a  

^a UNIVERSITY OF TARTU   (Estonia)

Author keywords

Mutations; Phenylalanine hydroxylase; Phenylketonuria

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; TYROSINE;

ARTICLE; CLINICAL ARTICLE; DIET THERAPY; EASTERN EUROPE; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; MENTAL DEFICIENCY; MOLECULAR GENETICS; PHENYLKETONURIA; PRIORITY JOURNAL; USSR;

EID: 0029957452     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000472217     Document Type: Article

References (2)

1. Scriver CR, Kaufman S, Eisensmith RC, Woo SLC: The hyperphenylalaninemias; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease, ed 7. New York, McGraw Hill, 1995, pp 1015-1076.
2. Kwok SCM, Ledley FD, DiLella AG, Robson KJH, Woo SLC: Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry 1985;24:556-561.