Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency
- Author
- KUOKKANEN, Mikko1 2 ; KOKKONEN, Jorma3 ; ENATTAH, Nabil Sabri1 2 ; YLISAUKKO-OJA, Tero1 2 ; KOMU, Hanna2 ; VARILO, Teppo1 2 ; PELTONEN, Leena1 2 4 ; SAVILAHTI, Erkki5 ; JÄRVELÄ, Irma2 6
[1] Department of Molecular Medicine, National Public Health Institute, Finland
[2] Department of Medical Genetics, University of Helsinki, Finland
[3] Department of Paediatrics, Oulu University Hospital, Oulu, Finland
[4] Broad Institute of MIT and Harvard, Boston, United States
[5] Hospital for Children and Adolescents, University of Helsinki, Finland
[6] Helsinki University Central Hospital, Laboratory Services HUSLAB, Laboratory of Molecular Genetics, Helsinki, Finland - Source
American journal of human genetics. 2006, Vol 78, Num 2, pp 339-344, 6 p ; ref : 34 ref
- Publisher
- University of Chicago Press, Chicago, IL
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Congénital Déficit Gène Génétique Homme Lactase Mutation Enzyme Glycosidases Hydrolases O-Glycosidases
- Keyword (en)
- Congenital Deficiency Gene Genetics Human Lactase Mutation Enzyme Glycosidases Hydrolases O-Glycosidases
- Keyword (es)
- Congénito Déficiencia Gen Genética Hombre Lactase Mutación Enzima Glycosidases Hydrolases O-Glycosidases
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 17462283
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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DOI
10.1086/500053 
https://dx.doi.org/10.1086/500053
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