Titre:
  • Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.
Auteur:Bertelli, Matteo; Gallo, S; Buda, A; Cecchin, Stefano; Fabbri, A; Lapucci, Cristina; Andrighetto, G; Sidoti, V; Lorusso, L; Pandolfo, Massimo
Informations sur la publication:Journal of clinical neuroscience, 13, 4, page (443-448)
Statut de publication:Publié, 2006-05
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Adolescent
Cerebroside-Sulfatase -- genetics
Child
Child, Preschool
DNA Mutational Analysis
Family Health
Female
Humans
Italy
Leukodystrophy, Metachromatic -- genetics
Male
Mutation
Polymorphism, Genetic
Note générale:Comparative Study
Journal Article
Research Support, Non-U.S. Gov't
Langue:Anglais
Identificateurs:urn:issn:0967-5868
info:doi/10.1016/j.jocn.2005.03.039
info:pii/S0967-5868(06)00116-0
info:pmid/16678723