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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society of Human Genetics 2008
Aiheet:
Article
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia