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Polymorphism of human galactose-1-phosphate uridyl transferase.
Hum Hered. 1982; 32(1):42-5.HH

Abstract

Frequencies for the electrophoretically detectable alleles of galactose-1-phosphate uridyl transferase were determined from 406 neonates in Adelaide. GALT*D and GALT*LA frequencies were 0.054 and 0.027, respectively. The expected proportion of heterozygotes was 15.3%, with a GALT N-D component of 10%. The distinction between GALT*D and GALT*LA is essential for estimation of the expected frequency of GALT DG genotypes, an unknown proportion of which are detected as 'deficient' from neonates on galactosaemia screen.

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Authors

Mulley JC
No affiliation info available

MeSH

AllelesElectrophoresis, Starch GelGalactosemiasGene FrequencyHumansInfant, NewbornNucleotidyltransferasesPhenotypePolymorphism, GeneticUTP-Hexose-1-Phosphate Uridylyltransferase

Pub Type(s)

Journal Article

Language

eng

PubMed ID

6279487

Citation

Mulley, J C.. "Polymorphism of Human Galactose-1-phosphate Uridyl Transferase." Human Heredity, vol. 32, no. 1, 1982, pp. 42-5.
Mulley JC. Polymorphism of human galactose-1-phosphate uridyl transferase. Hum Hered. 1982;32(1):42-5.
Mulley, J. C. (1982). Polymorphism of human galactose-1-phosphate uridyl transferase. Human Heredity, 32(1), 42-5.
Mulley JC. Polymorphism of Human Galactose-1-phosphate Uridyl Transferase. Hum Hered. 1982;32(1):42-5. PubMed PMID: 6279487.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Polymorphism of human galactose-1-phosphate uridyl transferase. A1 - Mulley,J C, PY - 1982/1/1/pubmed PY - 1982/1/1/medline PY - 1982/1/1/entrez SP - 42 EP - 5 JF - Human heredity JO - Hum Hered VL - 32 IS - 1 N2 - Frequencies for the electrophoretically detectable alleles of galactose-1-phosphate uridyl transferase were determined from 406 neonates in Adelaide. GALT*D and GALT*LA frequencies were 0.054 and 0.027, respectively. The expected proportion of heterozygotes was 15.3%, with a GALT N-D component of 10%. The distinction between GALT*D and GALT*LA is essential for estimation of the expected frequency of GALT DG genotypes, an unknown proportion of which are detected as 'deficient' from neonates on galactosaemia screen. SN - 0001-5652 UR - https://www.unboundmedicine.com/medline/citation/6279487/Polymorphism_of_human_galactose_1_phosphate_uridyl_transferase_ L2 - https://www.karger.com?DOI=10.1159/000153256 DB - PRIME DP - Unbound Medicine ER -