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...

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Bibliografiske detaljer
Main Authors: 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
Sprog:Inglês
Udgivet: Springer Netherlands 2012
Fag:
Rapid Communication
Online adgang: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
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