Frequency of 12 mutations in 114 children with phenylketonuria in the Midwest region of the USA
Rent the article at a discountRent now
* Final gross prices may vary according to local VAT.Get Access
- DiLella AG, Kwok SCM, Ledly F, Marvit J, Woo SLC (1986) Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene.Biochemistry 25: 743–749.
- Eisensmith RC, Woo SLC (1992) Molecular basis of phenylketonuria: Mutations and polymorphisms in the phenylalanine hydroxylase gene.Hum Mutat 1: 13–23.
- Guldberg P, Henrikson KF, Guttler F (1993) Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.Genomics 17: 141–146.
- Kwok SCM, Ledly FD, DiLella AG, Robson KJH, Woo SLC (1985) Nucleotide sequence of a full length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase.Biochemistry 24: 556–561.
- Lidsky AS, Law ML, Morse HG et al (1985) Regional mapping of phenylketonuria hydroxylase gene and the phenylketonuria locus in the human genome.Proc Natl Acad Sci USA 82: 6221–6225.
- Matalon R, Michals K (1991) Phenylketonuria: screening, treatment and maternal PKU.Clin Biochem 24: 337–341.
- Okano Y, Eisensmith RC, Guttler F et al (1991) Molecular basis of phenotypic heterogeneity in phenylketonuria.N Engl J Med 324: 1232–1238.
- Ramus SJ, Forrest SM, Pitt DB, Saleeba JA, Cotton RGH (1993) Comparison of genotype and intellectual phenotype in untreated PKU patients.J Med Genet 30: 401–405.
- Scriver CR, Kaufman S, Woo SL (1989) The hyperphenylalaninemias. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic Basis of Inherited Disease, 6th edn. New York: McGraw-Hill, 495–546.
- Frequency of 12 mutations in 114 children with phenylketonuria in the Midwest region of the USA
Journal of Inherited Metabolic Disease
Volume 17, Issue 3 , pp 356-358
- Cover Date
- Print ISSN
- Online ISSN
- Kluwer Academic Publishers
- Additional Links
- Industry Sectors
- Author Affiliations
- 1. Research Institute, Miami Children's Hospital, 6125 S.W. 31st Street, 33155, Miami, FL, USA
- 2. Department of Pediatrics and Neurology, University of Michigan, Ann Arbor, MI, USA
- 3. Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA
- 4. Department of Nutrition, University of Illinois, Chicago, IL, USA