Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays
Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays
About this item
Full title
Author / Creator
H’mida-Ben Brahim, D. , M’zahem, A. , Assoum, M. , Bouhlal, Y. , Fattori, F. , Anheim, M. , Ali-Pacha, L. , Ferrat, F. , Chaouch, M. , Lagier-Tourenne, C. , Drouot, N. , Thibaut, C. , Benhassine, T. , Sifi, Y. , Stoppa-Lyonnet, D. , N’Guyen, K. , Poujet, J. , Hamri, A. , Hentati, F. , Amouri, R. , Santorelli, F. M. , Tazir, M. and Koenig, M.
Publisher
Berlin/Heidelberg: Springer-Verlag
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer-Verlag
Subjects
More information
Scope and Contents
Contents
The diagnosis of rare inherited diseases is becoming more and more complex as an increasing number of clinical conditions appear to be genetically heterogeneous. Multigenic inheritance also applies to the autosomal recessive progressive cerebellar ataxias (ARCAs), for which 14 genes have been identified and more are expected to be discovered. We us...
Alternative Titles
Full title
Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_05009569v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_05009569v1
Other Identifiers
ISSN
0340-5354
E-ISSN
1432-1459
DOI
10.1007/s00415-010-5682-5
