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Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy.

par 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
Référence Human genetics, 118, 5, page (559-567)
Publication Publié, 2006-01

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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