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

Journal of Inherited Metabolic Disease

Volumn 31, Issue 1, 2008, Pages 97-107

  Chhay, J S ^a   Openo, K K ^a   Eaton, J S ^b   Gentile, M ^c   Fridovich Keil, J L ^a,d  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b EMORY UNIVERSITY   (United States)

^c DI VENERE HOSPITAL   (Italy)

^d Department of Human Genetics ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ANALYSIS; FEMALE; GALACTOSEMIA; GENE EXPRESSION SYSTEM; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; HUMAN CELL; LYMPHOBLAST; MALE; MISSENSE MUTATION; MULTIGENE FAMILY; MUTATIONAL ANALYSIS; NONHUMAN; NONSENSE MUTATION; PROTEIN EXPRESSION; YEAST;

ALLELES; CASE-CONTROL STUDIES; CELLS, CULTURED; CHROMOSOME SEGREGATION; FAMILY; GALACTOSE; GALACTOSEMIAS; GENE EXPRESSION REGULATION, FUNGAL; GENETIC HETEROGENEITY; HUMANS; LYMPHOCYTES; MODELS, BIOLOGICAL; MUTATION, MISSENSE; PEDIGREE; SEVERITY OF ILLNESS INDEX; TRANSFECTION; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; YEASTS;

EID: 40849114576     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0786-5     Document Type: Article

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