Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a f...
Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations
About this item
Full title
Author / Creator
Moulard, Bruno , Genton, Pierre , Grid, Djamel , Jeanpierre, Marc , Ouazzani, Réda , Mrabet, Amel , Morris, Mike , LeGuern, Eric , Dravet, Charlotte , Mauguière, François , Utermann, Barbara , Baldy-Moulinier, Michel , Belaidi, Halima , Bertran, Françoise , Biraben, Arnaud , Ali Chérif, André , Chkili, Taieb , Crespel, Arielle , Darcel, Françoise , Dulac, Olivier , Geny, Christian , Humbert-Claude, Véronique , Kassiotis, Philippe , Buresi, Catherine and Malafosse, Alain
Publisher
Heidelberg: Springer
Journal title
Language
English
Formats
Publication information
Publisher
Heidelberg: Springer
Subjects
More information
Scope and Contents
Contents
Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy common in Finland and North Africa, and less common in Western Europe. ULD is mostly caused by expansion of a dodecamer repeat in the cystatin B gene ( CSTB) promoter. We performed a haplotype study of ULD chromosomes (ULDc) with the repeat expansion. We included 48 West European...
Alternative Titles
Full title
Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations
Authors, Artists and Contributors
Author / Creator
Genton, Pierre
Grid, Djamel
Jeanpierre, Marc
Ouazzani, Réda
Mrabet, Amel
Morris, Mike
LeGuern, Eric
Dravet, Charlotte
Mauguière, François
Utermann, Barbara
Baldy-Moulinier, Michel
Belaidi, Halima
Bertran, Françoise
Biraben, Arnaud
Ali Chérif, André
Chkili, Taieb
Crespel, Arielle
Darcel, Françoise
Dulac, Olivier
Geny, Christian
Humbert-Claude, Véronique
Kassiotis, Philippe
Buresi, Catherine
Malafosse, Alain
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_72067114
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_72067114
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-002-0755-x
