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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Human Genetics 2008
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On-line přístup: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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