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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Marion B. Coulter-Mackie

Department of Pediatrics

University of British Columbia

Vancouver

Canada

[email]@interchange.ubc.ca

Name/email consistency: high

 
 
 
 
 
 
 

Affiliations

  • Department of Pediatrics, University of British Columbia, Vancouver, Canada. 1998 - 2008
  • Department of Pediatrics, Children and Women's Health Centre of BC, University of British Columbia, 4500 Oak Street, Canada. 2001 - 2008

References

  1. Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results. Coulter-Mackie, M.B., Lian, Q., Applegarth, D.A., Toone, J., Waters, P.J., Vallance, H. Clin. Biochem. (2008) [Pubmed]
  2. Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants. Coulter-Mackie, M.B., Lian, Q. Mol. Genet. Metab. (2008) [Pubmed]
  3. 4-Hydroxyproline metabolism and glyoxylate production: A target for substrate depletion in primary hyperoxaluria?. Coulter-Mackie, M.B. Kidney Int. (2006) [Pubmed]
  4. Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor. Coulter-Mackie, M.B., Lian, Q., Wong, S.G. Protein Expr. Purif. (2005) [Pubmed]
  5. Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype. Coulter-Mackie, M.B. Am. J. Nephrol. (2005) [Pubmed]
  6. The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1. Coulter-Mackie, M.B., Lian, Q., Applegarth, D., Toone, J. Mol. Genet. Metab. (2005) [Pubmed]
  7. The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1. Coulter-Mackie, M.B., Applegarth, D., Toone, J.R., Henderson, H. Mol. Genet. Metab. (2004) [Pubmed]
  8. Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis. Coulter-Mackie, M.B., Rumsby, G. Mol. Genet. Metab. (2004) [Pubmed]
  9. The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans. Coulter-Mackie, M.B., Tung, A., Henderson, H.E., Toone, J.R., Applegarth, D.A. Mol. Genet. Metab. (2003) [Pubmed]
  10. Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele. Coulter-Mackie, M.B., Gagnier, L. Mol. Genet. Metab. (2003) [Pubmed]
  11. Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria. Coulter-Mackie, M.B., Rumsby, G., Applegarth, D.A., Toone, J.R. Mol. Genet. Metab. (2001) [Pubmed]
  12. A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping. Coulter-Mackie, M.B. J. Inherit. Metab. Dis. (1999) [Pubmed]
  13. A protocol for detection of mitochondrial DNA deletions: characterization of a novel deletion. Coulter-Mackie, M.B., Applegarth, D.A., Toone, J.R., Gagnier, L. Clin. Biochem. (1998) [Pubmed]
 
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