Titre:
  • Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy.
Auteur:Shoichet, Sarah A; Duprez, Laurence; Hagens, Olivier; Waetzig, Vicki; Menzel, Corinna; Herdegen, Thomas; Schweiger, Susann; Dan, Bernard; Vamos, Eszter; Ropers, H Hilger; Kalscheuer, Vera M
Informations sur la publication:Human genetics, 118, 5, page (559-567)
Statut de publication:Publié, 2006-01
Sujet CREF:Sciences bio-médicales et agricoles
Psychologie
MeSH keywords:Base Sequence
Blotting, Western
Brain Diseases -- genetics
Central Nervous System -- metabolism
Chromosomes, Human, Pair 4
Chromosomes, Human, Y
DNA Primers
Epilepsy -- genetics
Fluorescent Antibody Technique
Hela Cells
Humans
Infant
Male
Mitogen-Activated Protein Kinase 10 -- genetics
Molecular Sequence Data
RNA, Messenger -- genetics
Severity of Illness Index
Translocation, Genetic
Note générale:Journal Article
Research Support, Non-U.S. Gov't
Langue:Anglais
Identificateurs:urn:issn:0340-6717
info:doi/10.1007/s00439-005-0084-y
info:scp/29244450181
info:pmid/16249883