Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency
- Author
- WILLERS, I1 ; BOLZ, H1 ; WEHNERT, M2 ; GAL, A1
[1] Institut für Humangenetik, Universitäts-Klinikum Eppendorf, Butenfeld 42, 22529 Hamburg, Germany
[2] Institut für Humangenetik, Ernst-Moritz-Arndt-Universität, Greifswald, Germany - Source
Journal of inherited metabolic disease. 1999, Vol 22, Num 7, pp 845-846 ; ref : 3 ref
- 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)
- Déficit Etiologie Gène Génétique Homme Hypoxanthine phosphoribosyltransferase Lesch Nyhan syndrome Mutation Partiel Enzyme Enzymopathie Glycosyltransferases Hyperuricémie Maladie héréditaire Métabolisme pathologie Pentosyltransferases Système nerveux pathologie Transferases
- Keyword (en)
- Deficiency Etiology Gene Genetics Human Hypoxanthine phosphoribosyltransferase Lesch Nyhan syndrome Mutation Partial Enzyme Enzymopathy Glycosyltransferases Hyperuricemia Genetic disease Metabolic diseases Pentosyltransferases Nervous system diseases Transferases
- Keyword (es)
- Déficiencia Etiología Gen Genética Hombre Hypoxanthine phosphoribosyltransferase Lesch Nyhan síndrome Mutación Parcial Enzima Enzimopatía Glycosyltransferases Hiperuricemia Enfermedad hereditaria Metabolismo patología Pentosyltransferases Sistema nervioso patología Transferases
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D05 Miscellaneous hereditary metabolic disorders
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1973580
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
10.1023/A:1005522527689 
https://dx.doi.org/10.1023/A:1005522527689
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