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P J Waters

Showing results (1-10 of 26) with videos related to

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Current Issues in Molecular Biology|August 8, 2001
Degradation of mutant proteins, underlying "loss of function" phenotypes, plays a major role in genetic diseaseP J Waters
Trends in Genetics : TIG|July 3, 1999
Monogenic traits are not simple: lessons from phenylketonuriaC R Scriver, P J Waters
Annals of Clinical Biochemistry|November 1, 1992
Measurement of sialic acid in serum and urine: clinical applications and limitationsP J Waters, E Lewry, C A Pennock
Molecular 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 Parniak
Annals of Clinical Biochemistry|January 1, 1994
Association between serum cholesterol and leucocyte lysosomal functionP J Waters, M D Flynn, C A Pennock
Biochemical Society Transactions|October 10, 1998
Degradation rates differ between mutant and wild-type forms of phenylalanine hydroxylase expressed in vitroP J Waters, C R Scriver, M A Parniak
The Biochemical Journal|August 1, 1994
Freeze-stable sialidase activity in human leucocytes: substrate specificity, inhibitor susceptibility, detergent requirements and subcellular localizationP J Waters, A P Corfield, R Eisenthal, et al.
Human 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.
BMJ (Clinical Research Ed.)|March 2, 1991
Sialic acid and cardiovascular mortalityM D Flynn, R J Corrall, P J Waters, et al.
Pageof 3

Showing results (1-10 of 26) with videos related to

Sort By:
Pageof 3
Current Issues in Molecular Biology|August 8, 2001
Degradation of mutant proteins, underlying "loss of function" phenotypes, plays a major role in genetic diseaseP J Waters
Trends in Genetics : TIG|July 3, 1999
Monogenic traits are not simple: lessons from phenylketonuriaC R Scriver, P J Waters
Annals of Clinical Biochemistry|November 1, 1992
Measurement of sialic acid in serum and urine: clinical applications and limitationsP J Waters, E Lewry, C A Pennock
Molecular 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 Parniak
Annals of Clinical Biochemistry|January 1, 1994
Association between serum cholesterol and leucocyte lysosomal functionP J Waters, M D Flynn, C A Pennock
Biochemical Society Transactions|October 10, 1998
Degradation rates differ between mutant and wild-type forms of phenylalanine hydroxylase expressed in vitroP J Waters, C R Scriver, M A Parniak
The Biochemical Journal|August 1, 1994
Freeze-stable sialidase activity in human leucocytes: substrate specificity, inhibitor susceptibility, detergent requirements and subcellular localizationP J Waters, A P Corfield, R Eisenthal, et al.
Human 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.
BMJ (Clinical Research Ed.)|March 2, 1991
Sialic acid and cardiovascular mortalityM D Flynn, R J Corrall, P J Waters, et al.
Pageof 3