A common mutation associated with the duarte galactosemia allele
- Author
- ELSAS, L. J; DEMBURE, P. P; LANGLEY, S; PAULK, E. M; HJELM, L. N; FRIDOVICH-KEIL, J
Emory univ. school medicine, dep. pediatrics, div. medical genetics, Atlanta GA 30322, United States - Source
American journal of human genetics. 1994, Vol 54, Num 6, pp 1030-1036 ; ref : 1 p. 1/4
- Publisher
- University of Chicago Press, Chicago, IL
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Allèle Epidémiologie Erythrocyte Galactosémie Glucide Génotype Homme Mutation Phénotype Prévalence Enzymopathie Maladie héréditaire Métabolisme pathologie Santé publique
- Keyword (en)
- Allele Epidemiology Red blood cell Galactosemia Carbohydrate Genotype Human Mutation Phenotype Prevalence Enzymopathy Genetic disease Metabolic diseases Public health
- Keyword (es)
- Alelo Epidemiología Eritrocito Galactosemia Glúcido Genotipo Hombre Mutación Fenotipo Prevalencia Enzimopatía Enfermedad hereditaria Metabolismo patología Salud pública
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D03 Carbohydrates (enzymatic deficiencies). Glycogenosis
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 4158200
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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