Associated Papers
In Silico Identification of a Key Residue for Substrate Recognition of the Riboflavin Membrane Transporter RFVT3.
Dilly S et al.
Journal of Chemical Information and Modeling, 2020
An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency.
O'Callaghan B et al.
Journal of Inherited Metabolic Disease, 2019
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
Bosch AM et al.
Orphanet Journal of Rare Diseases, 2012
Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2).
Nabokina SM et al.
Molecular Genetics and Metabolism, 2012
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.
Green P et al.
American Journal of Human Genetics, 2010
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