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
MeSH keywords: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 générale: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:scp/7244240725
info:pmid/15505382