利用新一代测序技术鉴定出一种具有移码突变的新型等位基因HLA-DRB4*01:165N。
Identification of a novel allele with a frameshift mutation, HLA-DRB4*01:165N, using next-generation sequencing.
作者信息
Hu Qian, Burns Caitlyn, McKinley Connie, Christian Danielle, Berka Noureddine
机构信息
Histocompatibility and Immunogenetics Laboratory, Alberta Precision Laboratories, Calgary, Alberta, Canada.
Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, Alberta, Canada.
出版信息
HLA. 2023 Jun;101(6):699-700. doi: 10.1111/tan.14954. Epub 2022 Dec 30.
PMID:36572633
Abstract
HLA-DRB4*01:165N exhibits deletion of a nucleotide in exon 3, producing a premature stop codon.
摘要
HLA - DRB4*01:165N在第3外显子中出现一个核苷酸缺失，产生一个提前终止密码子。
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