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Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing.
Hum Genet. 1983; 63(3):274-9.HG

Abstract

Isoelectric focusing (IEF) in polyacrylamide gels has been used to study the isozymes of human galactose-1-phosphate uridylyltransferase (GALT) in erythrocytes and fibroblasts. In addition to the usefulness of IEF in differentiating normal, Duarte variant, and galactosemic homozygotes and heterozygotes, the ability of IEF to distinguish the residual GALT activity in two different galactosemic fibroblast lines and in revertants from them is demonstrated.

Authors

Kelley RI
No affiliation info available
Harris H
No affiliation info available
Mellman WJ
No affiliation info available

MeSH

Cells, CulturedErythrocytesFibroblastsGenetic VariationHumansIsoelectric FocusingNucleotidyltransferasesUTP-Hexose-1-Phosphate Uridylyltransferase

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

6303941

Citation

Kelley, R I., et al. "Characterization of Normal and Abnormal Variants of Galactose-1-phosphate Uridylyltransferase (EC 2.7.7.12) By Isoelectric Focusing." Human Genetics, vol. 63, no. 3, 1983, pp. 274-9.
Kelley RI, Harris H, Mellman WJ. Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing. Hum Genet. 1983;63(3):274-9.
Kelley, R. I., Harris, H., & Mellman, W. J. (1983). Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing. Human Genetics, 63(3), 274-9.
Kelley RI, Harris H, Mellman WJ. Characterization of Normal and Abnormal Variants of Galactose-1-phosphate Uridylyltransferase (EC 2.7.7.12) By Isoelectric Focusing. Hum Genet. 1983;63(3):274-9. PubMed PMID: 6303941.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing. AU - Kelley,R I, AU - Harris,H, AU - Mellman,W J, PY - 1983/1/1/pubmed PY - 1983/1/1/medline PY - 1983/1/1/entrez SP - 274 EP - 9 JF - Human genetics JO - Hum Genet VL - 63 IS - 3 N2 - Isoelectric focusing (IEF) in polyacrylamide gels has been used to study the isozymes of human galactose-1-phosphate uridylyltransferase (GALT) in erythrocytes and fibroblasts. In addition to the usefulness of IEF in differentiating normal, Duarte variant, and galactosemic homozygotes and heterozygotes, the ability of IEF to distinguish the residual GALT activity in two different galactosemic fibroblast lines and in revertants from them is demonstrated. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/6303941/Characterization_of_normal_and_abnormal_variants_of_galactose_1_phosphate_uridylyltransferase__EC_2_7_7_12__by_isoelectric_focusing_ L2 - https://antibodies.cancer.gov/detail/CPTC-REV3L-1 DB - PRIME DP - Unbound Medicine ER -