CLPUB00453
Andrew Pepler Boright;
Prolidase deficiency: studies in human dermal fibroblasts.
Thesis PhD (1988); McGill University Montreal; Montreal; Canada

PubMed=2705457; PMCID=PMC1715628
Andrew Pepler Boright, Charles Robert Scriver, Gerald A. Lancaster, Francis Y.-M. Choy;
Prolidase deficiency: biochemical classification of alleles.
Am. J. Hum. Genet. 44:731-740(1989)

CLPUB00668
Natascia Anastasio;
Allelic expression of MMACHC and evidence for genotype-phenotype correlations in cblC disease.
Thesis MSc (2010); McGill University Montreal; Montreal; Canada

PubMed=20524213; DOI=10.1002/humu.21297; PMCID=PMC2909035
Edward Valerian Quadros, Shao-Chiang Lai, Yasumi Nakayama, Jeffrey M. Sequeira, Luciana Hannibal, Si-He Wang, Donald W. Jacobsen, Sergey Fedosov, Erica Wright, Renata C. Gallagher, Natascia Anastasio ...Show all 13 authors... , David Watkins, David S. Rosenblatt; Show fewer authors
Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).
Hum. Mutat. 31:924-929(2010)

PubMed=20876107; DOI=10.1073/pnas.1004487107; PMCID=PMC2955112
Stormy J. Chamberlain, Ivy Pin-Fang Chen, Khong Y. Ng, Fany Bourgois-Rocha, Fouad Lemtiri-Chlieh, Eric S. Levine, Marc E. Lalande;
Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes.
Proc. Natl. Acad. Sci. U.S.A. 107:17668-17673(2010)