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Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family.
Hum Genet. 1979 Apr 17; 48(1):121-4.HG

Abstract

Enzymatic activity and electrophoretic mobility of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) were assayed in a Mexican family (8 sibs and their parents) with two galactosemic members. Normal, galactosemic and Los Angeles enzyme variants were identified. A survey of the ethnological backgrounds of the individuals reported to date with the Los Angeles variant showed multiple origins that could be explained by an ancient and widespread gene mutation or, more probably, by further biochemical heterogeneity.

Authors

Ibarra B
No affiliation info available
Vaca G
No affiliation info available
Sánchez-Corona J
No affiliation info available
Hernández A
No affiliation info available
Ramirez ML
No affiliation info available
Cantú JM
No affiliation info available

MeSH

AdolescentAdultFemaleGalactosemiasGenetic VariationHumansMaleMexicoMutationNucleotidyltransferasesPedigreeUTP-Hexose-1-Phosphate Uridylyltransferase

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

457126

Citation

Ibarra, B, et al. "Los Angeles Variant of Galactose-1-phosphate Uridyltransferase (EC 2.7.7.12) in a Mexican Family." Human Genetics, vol. 48, no. 1, 1979, pp. 121-4.
Ibarra B, Vaca G, Sánchez-Corona J, et al. Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family. Hum Genet. 1979;48(1):121-4.
Ibarra, B., Vaca, G., Sánchez-Corona, J., Hernández, A., Ramirez, M. L., & Cantú, J. M. (1979). Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family. Human Genetics, 48(1), 121-4.
Ibarra B, et al. Los Angeles Variant of Galactose-1-phosphate Uridyltransferase (EC 2.7.7.12) in a Mexican Family. Hum Genet. 1979 Apr 17;48(1):121-4. PubMed PMID: 457126.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family. AU - Ibarra,B, AU - Vaca,G, AU - Sánchez-Corona,J, AU - Hernández,A, AU - Ramirez,M L, AU - Cantú,J M, PY - 1979/4/17/pubmed PY - 1979/4/17/medline PY - 1979/4/17/entrez SP - 121 EP - 4 JF - Human genetics JO - Hum Genet VL - 48 IS - 1 N2 - Enzymatic activity and electrophoretic mobility of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) were assayed in a Mexican family (8 sibs and their parents) with two galactosemic members. Normal, galactosemic and Los Angeles enzyme variants were identified. A survey of the ethnological backgrounds of the individuals reported to date with the Los Angeles variant showed multiple origins that could be explained by an ancient and widespread gene mutation or, more probably, by further biochemical heterogeneity. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/457126/Los_Angeles_variant_of_galactose_1_phosphate_uridyltransferase__EC_2_7_7_12__in_a_Mexican_family_ DB - PRIME DP - Unbound Medicine ER -