van Kuilenburg A.B., Meinsma R., Assman B., Hoffman G.F., Voit T., Ribes A., Lorente I., Busch R., Mayatepek E., Abeling N.G. et al.

Nucleosides Nucleotides Nucleic Acids 25:1093-1098(2006) GeneRIF 51733 · Mapped (6)
analysis of the beta-ureidopropionase gene (UPB1) of the first 4 patients presenting with a complete enzyme deficiency revealed the presence of 2 splice-site mutations (IVS1-2A>G and IVS8-1G>A) and one missense mutation (A85E) GeneRIF 51733

Thomas H.R., Ezzeldin H.H., Guarcello V., Mattison L.K., Fridley B.L., Diasio R.B.

Pharmacogenet. Genomics 17:973-987(2007) GeneRIF 51733 · Mapped (7)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 51733

Thomas H.R., Ezzeldin H.H., Guarcello V., Mattison L.K., Fridley B.L., Diasio R.B.

Pharmacogenet. Genomics 18:25-35(2008) GeneRIF 51733 · Mapped (6)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 51733

BRIGHT Consortium
Talmud P.J., Drenos F., Shah S., Shah T., Palmen J., Verzilli C., Gaunt T.R., Pallas J., Lovering R., Li K. et al.

Am. J. Hum. Genet. 85:628-642(2009) GeneRIF 51733 · Mapped (10,092)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 51733

Bailey S.D., Xie C., Do R., Montpetit A., Diaz R., Mohan V., Keavney B., Yusuf S., Gerstein H.C., Engert J.C. et al.

Diabetes Care 33:2250-2253(2010) GeneRIF 51733 · Mapped (10,071)
Observational study of gene-disease association gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) GeneRIF 51733

van Kuilenburg A.B., Dobritzsch D., Meijer J., Krumpel M., Selim L.A., Rashed M.S., Assmann B., Meinsma R., Lohkamp B., Ito T. et al.

Biochim. Biophys. Acta 1822:1096-1108(2012) GeneRIF 51733 · Mapped (6)
biochemical and molecular findings of 11 newly identified ss-ureidopropionase deficient patients as well as the analysis of the mutations in a three-dimensional framework were reported. GeneRIF 51733