A novel compound heterozygous mutation in the ACADS gene in a Chinese family with short-chain acyl-C

来源 :第十四次全国医学遗传学学术会议 | 被引量 : 0次 | 上传用户：zhengxkun12

【摘要】

：

　　Short-chain acyl-coenzyme A (CoA) dehydrogenase deficiency (SCADD) is considered a rare autosomal recessive inherited disorder of mitochondrial fatty acid b

【作者】

：

Ti-ZhenYan[1]MinZheng[2]NingTang[1]Zhe-TaoLi[1]Wu-GaoLi[1]Da-YuChen[2]BoWei[3]Shi-QiangLuo[1]Yun-ZhiLiu[3]RenCai[2]

【机构】

：

Liuzhou Key Laboratory of birth defects prevention and control, Liuzhou, Guangxi 545001,P.R.China

【出处】

：

第十四次全国医学遗传学学术会议

【发表日期】

：

2015年期

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　　Short-chain acyl-coenzyme A (CoA) dehydrogenase deficiency (SCADD) is considered a rare autosomal recessive inherited disorder of mitochondrial fatty acid beta-oxidation associated with mutations in the ACADS gene.The mutational spectrums of the ACADS gene and the phenotype-genotype correlations have not yet fully been established.

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A novel compound heterozygous mutation in the ACADS gene in a Chinese family with short-chain acyl-C

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