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一个核苷酸的缺失导致载脂蛋白CII(多伦多载脂蛋白CII)功能缺陷。

A deletion of one nucleotide results in functional deficiency of apolipoprotein CII (apo CII Toronto).

作者信息

Cox D W, Wills D E, Quan F, Ray P N

机构信息

Research Institute, Hospital for Sick Children, Toronto, Canada.

出版信息

J Med Genet. 1988 Oct;25(10):649-52. doi: 10.1136/jmg.25.10.649.

Abstract

Apolipoprotein CII Toronto is a mutant non-functional apo CII resulting in apo CII deficiency. A portion of the mutant apo CII gene was cloned into lambda gt10 and subclones were sequenced. A deletion of one base was found in the codon for amino acid Thr68, resulting in alteration of six amino acids and premature termination of the protein at amino acid 74.

摘要

载脂蛋白CII多伦多型是一种突变的无功能载脂蛋白CII,导致载脂蛋白CII缺乏。将部分突变的载脂蛋白CII基因克隆到λgt10中,并对亚克隆进行测序。发现在苏氨酸68密码子处有一个碱基缺失,导致六个氨基酸改变,并使蛋白质在氨基酸74处提前终止。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b536/1051556/43d8611a00ae/jmedgene00072-0002-a.jpg

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