Charles Robert Scriver, MD
Primary Axis:
Medical Genetics and Genomics
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Email contact form Research Focus:
The research in human biochemical genetics focussed primarily on inborn errors of amino acid and mineral metabolism; there was a particular interest on membrane transporters of water-soluble substrates, e.g. amino acids and phosphate anion. Several animal models served this work. Many new Mendelian disorders were discovered. Methods for population screening, diagnosis and treatment were developed. A classic genetic disease called Phenylketonuria is now being used to show how allelic diversity, population histories, locus heterogeneity, environmental experienceand modifier loci are all involved in the journey from genotype to phenotype.Human genetics, population genetics, biochemical genetics, mutation databases, hyperphenylalaninemia
External Website:
External Website Keywords:
Human genetics, population genetics, biochemical genetics, mutation databases, hyperphenylalaninemia
Location:
Montreal Children's Hospital Publications:
Erlandsen H, Pey AL, Gamez A, Perez B, Desviat LR, Aguado C, Koch R, Surdendran S, Tyring S, Matalon R, Scriver CR, Ugarte M, Martinez A, Stevens RC. Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proc Nat Acad Sci 101: 16903-16908; 2004.
Scriver CR, Hurtubise M, Konecki D, Phommarinh M, Prevost L, Erlandsen H, Stevens R, Waters PJ, Ryan S, McDonald D, Sarkissian C. PAHdb 2003: What a locus-specific knowledgebase can do. Human Mutation 21: 333-344; 2003.Liens connexesOnline abstract: Phenylaline Hydroxylase Locus Knowledgebase
Sarkissian CN, Shao Z, Blain F, Peevers R, Su H, Heft R, Chang TMS, Scriver CR. A different approach to treatment of phenylketonuria: Phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proceedings of the National Academy of Sciences of the United States of America 96: 2339-2344; 1999.
