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Trends in Genetics : TIG|July 3, 1999
Monogenic traits are not simple: lessons from phenylketonuriaC R Scriver, P J WatersMolecular Genetics and Metabolism|July 20, 2001
Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemiaP J Waters, C R Scriver, M A ParniakHuman Mutation|February 5, 1998
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to functionP J Waters, M A Parniak, P Nowacki, et al.Human Mutation|October 29, 1998
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH)P J Waters, M A Parniak, A S Hewson, et al.Molecular Genetics and Metabolism|March 18, 2000
Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotypeP J Waters, M A Parniak, B R Akerman, et al.American Journal of Human Genetics|December 18, 1997
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlationsE Kayaalp, E Treacy, P J Waters, et al.Pediatric Research|October 6, 1997
Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: a pilot studyE P Treacy, J J Delente, G Elkas, et al.Ciba Foundation Symposium|June 27, 1979
On being an individual, or: the man in the red hatC R ScriverJournal of Inherited Metabolic Disease|January 1, 1989
The salience of Garrod's 'molecular groupings' and 'Inborn Factors in Disease'C R ScriverPageof 19