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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,Wu-gao Li,Shi-qiang Luo,Ti-zhen Yan,Ning Tang,Jing-wen Li,Zhe-tao 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 ident...
[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...
Targeted genomic capture and massively parallel sequencing to identify novel mutations causing hered
[会议论文] 作者：Zhe-tao Li,Shi-qiang Luo,Ti-zhen Yan,Jing-wen Li,Ning Tang,Ji-wei Huang,Wu-gao Li,Xiang-rong Tang,Yan,
来源：第十四次全国医学遗传学学术会议 年份：2015
Background: Hereditary hearing loss is genetically heterogeneous, and hundreds of mutations in than 60 genes are involved in this disease....
Targeted genomic capture and massively parallel sequencing to identify novel mutations causing hered
[会议论文] 作者：Ti-zhen Yan,Ning Tang,Xiang-rong Tang,Wu-gao Li,Zhe-tao Li,Shi-qiang Luo,Yan Yang,Jing-wen Li,Ji-wei,
来源：第十四次全国医学遗传学学术会议 年份：2015
Background: Hereditary hearing loss is genetically heterogeneous, and hundreds of mutations in than 60 genes are involved in this disease....
A novel mutation in the WFS1 gene identified in a large Chinese family with low-frequency hearing im
[会议论文] 作者：Ti-zhen Yan,Ning Tang,Xiang-rong Tang,Wu-gao Li,Zhe-tao Li,Shi-qiang Luo,Yan Yang,Jmg-wen Li,Ji-wei Huang,
来源：第十四次全国医学遗传学学术会议 年份：2015
Background: Wolfram syndrome gene 1 (WFS1) accounts for most of the familial nonsyndromic low-frequency sensorineural hearing loss (LFSNHL) which is characterized by sensorineural hearing losses equal...
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...
Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal mu
[会议论文] 作者：Fang,Liang Li,Wan-Jun Zhou,Ze-Yan Zhong,Li Lin,Xiang-Min Xu,Jian Zeng,Wei-Qing Wu,Jian-Sheng Xie,Ti-Zhen Yan,
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
...
Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal mu
[会议论文] 作者：Ping Fang,Liang Li,Jian Zeng,Wan-Jun Zhou,Wei-Qing Wu,Ze-Yan Zhong,Ti-Zhen Yan,Jian-Sheng Xie,Jing Huang,
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
Background: Spinal muscular atrophy (SMA) is caused by SMN1 dysfunction, and the copy number of SMN2 and NAIP can modify the phenotype of SMA.The aim of this study was to analyze the copy numbers and...
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