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Isoelectrofocusing of erythrocyte galactose 1 phospho uridyl transferase in a family with both galactosemia and Duarte variants.
Hum Genet. 1979 Jan 19; 46(1):89-96.HG

Abstract

A family with the presence of the genes for both galactosemia and the Duarte variant is described. Galactose 1 phospho uridyl transferase has been studied not only by electrophoresis on starch gel, but also by isoelectro-focusing on thin-layer acrylamide. Normal and variant transferases were resolved into three bands, the isoelectric point of which was between 5.40 and 5.10 for the normal subjects, and between 5.25 and 4.95 for subjects with the Duarte variant.

Authors

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Pub Type(s)

Journal Article

Language

eng

PubMed ID

429011

Citation

Schapira, F, et al. "Isoelectrofocusing of Erythrocyte Galactose 1 Phospho Uridyl Transferase in a Family With Both Galactosemia and Duarte Variants." Human Genetics, vol. 46, no. 1, 1979, pp. 89-96.
Schapira F, Gregori C, Banroques J, et al. Isoelectrofocusing of erythrocyte galactose 1 phospho uridyl transferase in a family with both galactosemia and Duarte variants. Hum Genet. 1979;46(1):89-96.
Schapira, F., Gregori, C., Banroques, J., Vidailhet, M., Despoisses, S., & Vigneron, C. (1979). Isoelectrofocusing of erythrocyte galactose 1 phospho uridyl transferase in a family with both galactosemia and Duarte variants. Human Genetics, 46(1), 89-96.
Schapira F, et al. Isoelectrofocusing of Erythrocyte Galactose 1 Phospho Uridyl Transferase in a Family With Both Galactosemia and Duarte Variants. Hum Genet. 1979 Jan 19;46(1):89-96. PubMed PMID: 429011.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Isoelectrofocusing of erythrocyte galactose 1 phospho uridyl transferase in a family with both galactosemia and Duarte variants. AU - Schapira,F, AU - Gregori,C, AU - Banroques,J, AU - Vidailhet,M, AU - Despoisses,S, AU - Vigneron,C, PY - 1979/1/19/pubmed PY - 1979/1/19/medline PY - 1979/1/19/entrez SP - 89 EP - 96 JF - Human genetics JO - Hum Genet VL - 46 IS - 1 N2 - A family with the presence of the genes for both galactosemia and the Duarte variant is described. Galactose 1 phospho uridyl transferase has been studied not only by electrophoresis on starch gel, but also by isoelectro-focusing on thin-layer acrylamide. Normal and variant transferases were resolved into three bands, the isoelectric point of which was between 5.40 and 5.10 for the normal subjects, and between 5.25 and 4.95 for subjects with the Duarte variant. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/429011/Isoelectrofocusing_of_erythrocyte_galactose_1_phospho_uridyl_transferase_in_a_family_with_both_galactosemia_and_Duarte_variants_ L2 - http://www.diseaseinfosearch.org/result/2973 DB - PRIME DP - Unbound Medicine ER -