Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. Mutations in SLC52A3 (formerly C20orf54), coding for riboflavin transporter 2 (hRFT2), have been identified as the molecular genetic co...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Haack, Tobias B., Makowski, Christine, Yao, Yoshiaki, Graf, Elisabeth, Hempel, Maja, Wieland, Thomas, Tauer, Ulrike, Ahting, Uwe, Mayr, Johannes A., Freisinger, Peter, Yoshimatsu, Hiroki, Inui, Ken, Strom, Tim M., Meitinger, Thomas, Yonezawa, Atsushi, Prokisch, Holger
Format: Artigo
Idioma:Inglês
Publicat: Springer Netherlands 2012
Matèries:
Rapid Communication
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3470687/
https://ncbi.nlm.nih.gov/pubmed/22864630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-012-9513-y
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars