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

Author
CHHAY, J. S1 ; OPENO, K. K1 ; EATON, J. S2 ; GENTILE, M3 ; FRIDOVICH-KEIL, J. L1 4
[1] Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, United States
[2] Graduate Program in Genetics and Molecular Biology, Emory University, Atlanta, GA, United States
[3] Medical Genetic Unit, Hospital Di Venere, Bari, Italy
[4] Department of Human Genetics, Rm. 325.2 Whitehead Bldg, 615 Michael Street, Atlanta, GA 30322, United States
Source

Journal of inherited metabolic disease. 2008, Vol 31, Num 1, pp 97-107, 11 p ; ref : 1/2 p

CODEN
JIMDDP
ISSN
0141-8955
Scientific domain
Genetics; Nutrition, obesity, metabolic disorders
Publisher
Springer, Dordrecht
Publication country
Netherlands
Document type
Article
Language
English
Keyword (fr)
Allèle Association Biochimie Etude familiale Galactose Génotype Génétique Levure Maladie héréditaire Maladie métabolique Milieu familial Modèle Nutrition Variabilité génétique Variant Sévérité Déterminisme génétique Environnement social
Keyword (en)
Allele Association Biochemistry Family study Galactose Genotype Genetics Yeast Genetic disease Metabolic diseases Family environment Models Nutrition Genetic variability Variant Severity Genetic determinism Social environment
Keyword (es)
Alelo Asociación Bioquímica Estudio familiar Galactosa Genotipo Genética Levadura Enfermedad hereditaria Metabolismo patología Medio familiar Modelo Nutrición Variabilidad genética Variante Determinismo genético Contexto social
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases

Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics

Discipline
Medical genetics Metabolic diseases
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
20072789

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

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