Observations indicating the nature of the mutation in phenylketonuria
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01805662
Reference15 articles.
1. Bakay, B., Croce, C. M., Koprowski, H. and Nyhan, W. L. Restoration of HPRT activity in mouse cells after fusion.Proc. Natl. Acad. Sci. USA 70 (1973) 1998
2. Bakay, B., Nyhan, W. L., Croce, C. M. and Koprowski, H. Reversion in expression of hypoxanthine-guanine phosphoribosyl transferase following cell hybridisation.J. Cell Sci. 17 (1975) 567
3. Bartholomé, K. and Ertel, E. Immunological detection of phenylalanine hydroxylase in phenylketonuria.Lancet 1 (1978) 454
4. Caskey, C. T. and Kruh, G. D. The HPRT locus.Cell 16 (1979) 1
5. Choo, K. H. and Cotton, R. G. H. Genetics of the mammalian phenylalanine hydroxylase system: II. Immunological and two-dimensional gel electrophoretic studies of phenylalanine hydroxylase in cultured normal and mutant rat hepatoma cells.Biochem. Genet. 17 (1979) (in press)
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1. A prefrontal dysfunction model of early-treated phenylketonuria;European Journal of Pediatrics;1996-01
2. 6 Molecular Genetics of Phenylketonuria: From Molecular Anthropology to Gene Therapy;Advances in Genetics;1995
3. Neuropsychology of Early-treated Phenylketonuria: Specific Executive Function Deficits;Child Development;1990-12
4. Molecular Analysis of the Inheritance of Phenylketonuria and Mild Hyperphenylalaninemia in Families with Both Disorders;New England Journal of Medicine;1986-05-15
5. DETECTION OF PHENYLALANINE HYDROXYLASE MESSENGER RNA IN LIVER BIOPSY SAMPLES FROM PATIENTS WITH PHENYLKETONURIA;The Lancet;1985-01
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