A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family.

Chhay, J S; Openo, K K; Eaton, J S; Gentile, M; Fridovich-Keil, J L

Chhay, J S; Openo, K K; Eaton, J S; Gentile, M; Fridovich-Keil, J L.

Affiliation

Chhay JS; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

J Inherit Metab Dis ; 31(1): 97-107, 2008 Feb.

Article in En | MEDLINE | ID: mdl-18210213

Subject(s)

Alleles; Galactosemias/genetics; Models, Biological; UDPglucose-Hexose-1-Phosphate Uridylyltransferase/genetics; Yeasts/genetics; Case-Control Studies; Cells, Cultured; Chromosome Segregation/physiology; Family; Galactose/pharmacology; Galactosemias/classification; Gene Expression Regulation, Fungal/drug effects; Genetic Heterogeneity; Humans; Lymphocytes/enzymology; Lymphocytes/metabolism; Mutation, Missense/physiology; Pedigree; Severity of Illness Index; Transfection

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Yeasts / Alleles / Galactosemias / UDPglucose-Hexose-1-Phosphate Uridylyltransferase / Models, Biological Type of study: Observational_studies / Risk_factors_studies Limits: Humans Language: En Journal: J Inherit Metab Dis Year: 2008 Document type: Article Affiliation country: United States Country of publication: United States

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