Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

Hereditary spastic paraplegias (HSPs) are genetically and phenotypically heterogeneous disorders. Both “uncomplicated” and “complicated” forms have been described with various modes of inheritance. Sixteen loci for autosomal-recessive “complicated” HSP have been mapped. The SPG15 locus was first rep...

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Main Authors: Hanein, Sylvain, Martin, Elodie, Boukhris, Amir, Byrne, Paula, Goizet, Cyril, Hamri, Abdelmadjid, Benomar, Ali, Lossos, Alexander, Denora, Paola, Fernandez, José, Elleuch, Nizar, Forlani, Sylvie, Durr, Alexandra, Feki, Imed, Hutchinson, Michael, Santorelli, Filippo M., Mhiri, Chokri, Brice, Alexis, Stevanin, Giovanni
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Human Genetics 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427184/
https://ncbi.nlm.nih.gov/pubmed/18394578
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.03.004
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