Ontology highlight
ABSTRACT:
SUBMITTER: Boukhris A
PROVIDER: S-EPMC3710753 | biostudies-literature | 2013 Jul
REPOSITORIES: biostudies-literature
Boukhris Amir A Schule Rebecca R Loureiro José L JL Lourenço Charles Marques CM Mundwiller Emeline E Gonzalez Michael A MA Charles Perrine P Gauthier Julie J Rekik Imen I Acosta Lebrigio Rafael F RF Gaussen Marion M Speziani Fiorella F Ferbert Andreas A Feki Imed I Caballero-Oteyza Andrés A Dionne-Laporte Alexandre A Amri Mohamed M Noreau Anne A Forlani Sylvie S Cruz Vitor T VT Mochel Fanny F Coutinho Paula P Dion Patrick P Mhiri Chokri C Schols Ludger L Pouget Jean J Darios Frédéric F Rouleau Guy A GA Marques Wilson W Brice Alexis A Durr Alexandra A Zuchner Stephan S Stevanin Giovanni G
American journal of human genetics 20130606 1
Hereditary spastic paraplegias (HSPs) form a heterogeneous group of neurological disorders. A whole-genome linkage mapping effort was made with three HSP-affected families from Spain, Portugal, and Tunisia and it allowed us to reduce the SPG26 locus interval from 34 to 9 Mb. Subsequently, a targeted capture was made to sequence the entire exome of affected individuals from these three families, as well as from two additional autosomal-recessive HSP-affected families of German and Brazilian origi ...[more]