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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.

Authors

No affiliation info available

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 -