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

PubMed=2705457; PMCID=PMC1715628
Boright A.P., Scriver C.R., Lancaster G.A., Choy F.Y.-M.
Prolidase deficiency: biochemical classification of alleles.
Am. J. Hum. Genet. 44:731-740(1989)

CLPUB00668
Anastasio N.
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
Quadros E.V., Lai S.-C., Nakayama Y., Sequeira J.M., Hannibal L., Wang S.-H., Jacobsen D.W., Fedosov S., Wright E., Gallagher R.C., Anastasio N., Watkins D., Rosenblatt D.S.
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
Chamberlain S.J., Chen I.P.-F., Ng K.Y., Bourgois-Rocha F., Lemtiri-Chlieh F., Levine E.S., Lalande M.
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)