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Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
Haack TB, Makowski C, Yao Y, Graf E, Hempel M, Wieland T, Tauer U, Ahting U, Mayr JA, Freisinger P, Yoshimatsu H, Inui K, Strom TM, Meitinger T, Yonezawa A, Prokisch H. Haack TB, et al. Among authors: yao y. J Inherit Metab Dis. 2012 Nov;35(6):943-8. doi: 10.1007/s10545-012-9513-y. Epub 2012 Aug 3. J Inherit Metab Dis. 2012. PMID: 22864630 Free PMC article.
Functional involvement of RFVT3/SLC52A3 in intestinal riboflavin absorption.
Yoshimatsu H, Yonezawa A, Yao Y, Sugano K, Nakagawa S, Omura T, Matsubara K. Yoshimatsu H, et al. Among authors: yao y. Am J Physiol Gastrointest Liver Physiol. 2014 Jan;306(2):G102-10. doi: 10.1152/ajpgi.00349.2013. Epub 2013 Nov 21. Am J Physiol Gastrointest Liver Physiol. 2014. PMID: 24264046 Free article.
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