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Biochemical Genetics|April 10, 2015
SNP Variants in RET and PAX2 and Their Possible Contribution to the Primary Hyperoxaluria Type 1 PhenotypeMarion B Coulter-Mackie
American Journal of Nephrology|June 18, 2005
Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotypeMarion B Coulter-Mackie
Molecular Genetics and Metabolism|June 18, 2003
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 alleleMarion B Coulter-Mackie, Liane Gagnier
Molecular Genetics and Metabolism|October 7, 2004
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosisMarion B Coulter-Mackie, Gill Rumsby
Protein Expression and Purification|April 2, 2005
Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factorMarion B Coulter-Mackie, Qun Lian, Steve G Wong
Molecular Genetics and Metabolism|June 21, 2005
The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1Marion B Coulter-Mackie, Qun Lian, Derek Applegarth, et al.
Molecular Genetics and Metabolism|March 12, 2014
Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsyMarion B Coulter-Mackie, Sylvia Tiebout, Clara van Karnebeek, et al.
Molecular Genetics and Metabolism|April 28, 2004
The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1Marion B Coulter-Mackie, Derek Applegarth, Jennifer R Toone, et al.
Molecular Genetics and Metabolism|February 1, 2003
The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black AfricansMarion B Coulter-Mackie, Andrew Tung, Howard E Henderson, et al.
Molecular Genetics and Metabolism|July 13, 2012
Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsyMarion B Coulter-Mackie, Ailin Li, Qun Lian, et al.
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