Novel SLC5A6 mutations lead to B lymphocyte maturation defects with metabolic abnormality rescuable by biotin replenishment

Chu Han Hsieh, Ju Lee, Hsiang Hsuan Sung, Ya Fang Huang, Yu Sian Ding, Chia Yi Li, Chia Liang Yen, Chao Kai Hsu, Chun Keung Yu, Hsin Ying Hsieh, Michael Warren Hughes, Peng Chieh Chen, Chi Chang Shieh

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Medicine & Life Sciences