Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

Brown–Vialetto–Van Laere syndrome was first described in 1894 as a rare neurodegenerative disorder characterized by progressive sensorineural deafness in combination with childhood amyotrophic lateral sclerosis. Mutations in the gene, SLC52A3 (formerly C20orf54), one of three known riboflavin transp...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Johnson, Janel O., Gibbs, J. Raphael, Megarbane, Andre, Urtizberea, J. Andoni, Hernandez, Dena G., Foley, A. Reghan, Arepalli, Sampath, Pandraud, Amelie, Simón-Sánchez, Javier, Clayton, Peter, Reilly, Mary M., Muntoni, Francesco, Abramzon, Yevgeniya, Houlden, Henry, Singleton, Andrew B.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2012
Témata:
Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3437022/
https://ncbi.nlm.nih.gov/pubmed/22740598
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aws161
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky