Titre:
  • Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?
Auteur:Winnepenninckx, Birgitta; Errijgers, Vanessa; Delatte, France; Reyniers, Edwin; Kooy, Frank R.F.
Informations sur la publication:Human mutation, 20, 4, page (249-252)
Statut de publication:Publié, 2002
Sujet CREF:Génétique clinique
Biologie
Mots-clés:Diagnostic screening
MECP2
Mental retardation
MRX79
Rett Syndrome
RTT
X-linked
Xq28
Note générale:SCOPUS: ar.j
FLWIN
Langue:Anglais
Identificateurs:urn:issn:1059-7794
info:doi/10.1002/humu.10130
info:scp/0036389872
info:pmid/12325019