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Ethnic-specific splicing mutation of the carnitine-acylcarnitine translocase gene in a Chinese neona
[期刊论文] 作者:林青云,赖志刚,周镇邦,汤瑞芳,袁月冰,麦婉芳,陈恩和,
来源:中华医学杂志(英文版) 年份:2003
Citine-acylcitine translocase (CACT) deficiency (OMIM 212138) is an autosomal recessive disease caused by mutations of the SLC25A20 gene [solute carrier family...
[期刊论文] 作者:林青云,赖志刚,周镇邦,汤瑞芳,袁月冰,麦婉芳,陈恩和,
来源:Chinese Medical Journal 年份:2003
Carnitine acylcarnitinetranslocase (CACT )deficiency(OMIM 2 12 138)isanautosomalrecessivediseasecausedbymutationsoftheSLC2 5A2 0gene [solutecarrierfamily 2 5(ca...
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