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Updated: Jun 30, 2025

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在患有孤立蛋白尿症的患者中鉴定CUBN的新型致病变体

Huihui Yang1, Lanfen He1, Hongjian Gong2

  • 1Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Center), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.

Molecular genetics & genomic medicine
|March 15, 2024
PubMed
概括

库比林 (CUBN) 基因的突变可以导致没有贫血的分离蛋白尿症. 这项研究发现了新的CUBN变异,导致非进展性病,扩大了对蛋白尿的知识.

关键词:
这就是CUBN基因.孤立的蛋白质尿尿.病原性变体的病原性变体

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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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