Hum Genet. 1979 Apr 17;48(1):121-4.

Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family.

Ibarra B, Vaca G, Sánchez-Corona J, Hernández A, Ramirez ML, Cantú JM.

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.

PMID:: 457126; [PubMed - indexed for MEDLINE]

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Isoelectrofocusing of erythrocyte galactose 1 phospho uridyl transferase in a family with both galactosemia and Duarte variants. [Hum Genet. 1979]
Isoelectrofocusing of erythrocyte galactose 1 phospho uridyl transferase in a family with both galactosemia and Duarte variants.
Schapira F, Gregori C, Banroques J, Vidailhet M, Despoisses S, Vigneron C. Hum Genet. 1979 Jan 19; 46(1):89-96.
Molecular basis for Duarte and Los Angeles variant galactosemia. [Am J Hum Genet. 1997]
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Langley SD, Lai K, Dembure PP, Hjelm LN, Elsas LJ. Am J Hum Genet. 1997 Feb; 60(2):366-72.
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Review [From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency].
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Review Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype.
Tyfield LA. Eur J Pediatr. 2000 Dec; 159 Suppl 3:S204-7.

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Cited by 2 PubMed Central articles

Molecular basis for Duarte and Los Angeles variant galactosemia. [Am J Hum Genet. 1997]
Molecular basis for Duarte and Los Angeles variant galactosemia.
Langley SD, Lai K, Dembure PP, Hjelm LN, Elsas LJ. Am J Hum Genet. 1997 Feb; 60(2):366-72.
A common mutation associated with the Duarte galactosemia allele. [Am J Hum Genet. 1994]
A common mutation associated with the Duarte galactosemia allele.
Elsas LJ, Dembure PP, Langley S, Paulk EM, Hjelm LN, Fridovich-Keil J. Am J Hum Genet. 1994 Jun; 54(6):1030-6.

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Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in ...
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