SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters

BACKGROUND: Brown-Vialetto-Van Laere Syndrome (BVVLS), a rare neurological disorder characterized by bulbar palsies and sensorineural deafness, is mainly associated with defective riboflavin transporters encoded by the SLC52A2 and SLC52A3 genes. METHODS: Here we present a 16-year-old BVVLS patient b...

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Publicado no:Clin Chim Acta
Main Authors: Udhayabanu, Tamilarasan, Subramanian, Veedamali S, Teafatiller, Trevor, Gowda, Vykuntaraju K, Raghavan, Varun S, Varalakshmi, Perumal, Said, Hamid M, Ashokkumar, Balasubramaniem
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5521005/
https://ncbi.nlm.nih.gov/pubmed/27702554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cca.2016.09.022
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