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NANS-CDG:扩大临床见解与新型变异的新型患者

Sukdong Yoo1,2, Chong Kun Cheon1,2

  • 1Department of Pediatrics, School of Medicine, Pusan National University, Yangsan, Korea.

American journal of medical genetics. Part A
|June 1, 2024
PubMed
概括

这项研究详细介绍了第一个患有N-乙-d-神经氨基酸合成酶 - 糖基化先天性障碍 (NANS-CDG) 的韩国患者,这是一个罕见的遗传疾病. 基因分析揭示了新的NANS基因变异,扩大了NANS-CDG的已知多样性.

关键词:
N-乙-神经氨基酸是什么?葡萄糖化先天性疾病.骨发育不良症 骨发育不良症血小板细胞减少症 (Thrombocytopenia) 是一种

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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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