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A novel compound heterozygous mutation in the ACADS gene in a Chinese family with short-chain acyl-C
[会议论文] 作者：Ti-Zhen Yan,Ning Tang,Zhe-Tao Li,Wu-Gao Li,Shi-Qiang Luo,Min Zheng,Da-Yu Chen,Ji-Chang Chen,
来源：2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份：2014
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[会议论文] 作者：Ji-wei Huang,Shi-qiang Luo,Zhe-tao Li,Wu-gao Li,Ti-zhen Yan,Ning Tang,Jing-wen Li,Ren Cai,
来源：第十四次全国医学遗传学学术会议 年份：2015
Many large deletions involving the alpha-globin gene cluster on the short arm of the human chromosome 16 (16p13.3) result in alpha-thalassemia.Here we identified a novel telomeric (~235 kb) alpha-thal...
A novel compound heterozygous mutation in the ACADS gene in a Chinese family with short-chain acyl-C
[会议论文] 作者：Ti-Zhen Yan,Min Zheng,Ning Tang,Zhe-Tao Li,Wu-Gao Li,Shi-Qiang Luo,Da-Yu Chen,Ji-Chang Chen,
来源：2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份：2014
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 t...
[会议论文] 作者：YAN Ti-zhen,ZHONG Qing-yan,TANG Ning,WEI Shuo-feng,HUANG Qiu-ying,LUO Shi-qiang,LI Wu-gao,WANG Qiu-hua,
来源：2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份：2014
Objectives: To evaluate the clinical value of the multicolor melting curve analysis (MMCA) for gene mutation detection of G6PD deficiency.Methods: A total of 402 peripheral blood samples (256 males an...
A novel compound heterozygous mutation in the ACADS gene in a Chinese family with short-chain acyl-C
[会议论文] 作者：Ti-Zhen Yan,Min Zheng,Ning Tang,Zhe-Tao Li,Wu-Gao Li,Da-Yu Chen,Bo Wei,Shi-Qiang Luo,Yun-Zhi Liu,Ren,
来源：第十四次全国医学遗传学学术会议 年份：2015
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 t...
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