| Polymorphism of human galactose-1-phosphate uridyl transferase. | |
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MedLine Citation:
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PMID: 6279487 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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:
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J C Mulley |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Human heredity Volume: 32 ISSN: 0001-5652 ISO Abbreviation: Hum. Hered. Publication Date: 1982 |
Date Detail:
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Created Date: 1982-06-14 Completed Date: 1982-06-14 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0200525 Medline TA: Hum Hered Country: SWITZERLAND |
Other Details:
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Languages: eng Pagination: 42-5 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Alleles Electrophoresis, Starch Gel Galactosemias / diagnosis Gene Frequency Humans Infant, Newborn Nucleotidyltransferases / genetics* Phenotype Polymorphism, Genetic* UTP-Hexose-1-Phosphate Uridylyltransferase / genetics* |
| Chemical | |
Reg. No./Substance:
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EC 2.7.7.-/Nucleotidyltransferases; EC 2.7.7.10/UTP-Hexose-1-Phosphate Uridylyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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