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

标题
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
作者
关键词
hRFVT-2, hRFVT-3, BVVLS, Motor neuronopathy
出版物
CLINICA CHIMICA ACTA
Volume 462, Issue -, Pages 210-214
出版商
Elsevier BV
发表日期
2016-10-07
DOI
10.1016/j.cca.2016.09.022

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