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综合性纤毛病:一个台湾单中心研究

Yu-Wen Pan1, Tsung-Ying Ou2, Yen-Yin Chou1,3

  • 1Department of Pediatrics, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, No. 138, Shengli Rd., North Dist, Tainan, 70403, Taiwan, Republic of China.

BMC medical genomics
|April 26, 2024
PubMed
概括

整体外基因组测序确定了台湾患者综合征性纤维病变的遗传原因. 一个反复出现的巴德特-比德尔综合征2突变表明,在这个人群中存在创始人效应.

关键词:
阿尔斯特罗姆综合征是什么意思巴德特-比德尔综合征是什么意思纤维病症是一种纤维病症.朱伯特综合征是什么?朱伯特综合征是什么?口腔-面部-数字综合征整个外基因组的测序.

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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