Titre :
  • Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.
Auteur : Bertelli, Matteo ; Randi, D ; Micheli, V ; Gallo, S ; Andrighetto, G ; Parmigiani, P ; Jacomelli, G ; Carella, M ; Lievore, C ; Pandolfo, Massimo
Informations sur la publication : Journal of inherited metabolic disease, 27, 6, (page 767-773)
Statut de publication : Publié, 2004
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés MeSH : Adolescent
Adult
DNA -- genetics
Exons -- genetics
Female
Gene Deletion
Heterozygote
Humans
Hypoxanthine Phosphoribosyltransferase -- deficiency
Italy
Lesch-Nyhan Syndrome -- genetics
Lymphocytes -- enzymology
Lymphocytes -- metabolism
Male
Middle Aged
Mutation
Note : Journal Article
Research Support, Non-U.S. Gov't
Langue :
  • Anglais
Identificateurs : urn:issn:0141-8955 
info:doi/10.1023/B:BOLI.0000045799.78633.23
info:pii/5394413
info:pmid/15505382