Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

BACKGROUND: Point mutations in SPG4, the gene encoding spastin, are a frequent cause of autosomal dominant hereditary spastic paraplegia (AD‐HSP). However, standard methods for genetic analyses fail to detect exonic microdeletions. METHODS: 121 mutation‐negative probands were screened for rearrangem...

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Bibliographische Detailangaben
Hauptverfasser: Depienne, Christel, Fedirko, Estelle, Forlani, Sylvie, Cazeneuve, Cécile, Ribaï, Pascale, Feki, Imed, Tallaksen, Chantal, Nguyen, Karine, Stankoff, Bruno, Ruberg, Merle, Stevanin, Giovanni, Durr, Alexandra, Brice, Alexis
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 2007
Schlagworte:
Letter to JMG
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598038/
https://ncbi.nlm.nih.gov/pubmed/17098887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.046425
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