Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

BACKGROUND: The Neuronal Ceroid Lipofuscinoses (NCL) comprise at least nine progressive neurodegenerative genetic disorders. Kufs disease, an adult-onset form of NCL may be recessively or dominantly inherited. Our study aimed to identify genetic mutations associated with autosomal dominant Kufs dise...

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Detalles Bibliográficos
Autores principales: Velinov, Milen, Dolzhanskaya, Natalia, Gonzalez, Michael, Powell, Eric, Konidari, Ioanna, Hulme, William, Staropoli, John F., Xin, Winnie, Wen, Guang Y., Barone, Rosemary, Coppel, Scott H., Sims, Katherine, Brown, W. Ted, Züchner, Stephan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3250487/
https://www.ncbi.nlm.nih.gov/pubmed/22235333
http://dx.doi.org/10.1371/journal.pone.0029729

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3250487/
https://www.ncbi.nlm.nih.gov/pubmed/22235333
http://dx.doi.org/10.1371/journal.pone.0029729

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