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Literature DB >> 26841695

Identification of a novel missense mutation (563G>a) in the ABO gene associated with a Bel phenotype.

Reiko Niwa¹, Takayuki Nakayama¹, Hiroyuki Ishii², Emi Fujita¹, Kazuki Ishiyama¹, Tomohito Matsuo¹, Aya Shimizu¹, Siqiang Gao¹, Megumi Hayashi¹, Akiko Katai¹, Takanori Ando¹, Miyuki Takahashi¹, Kyosuke Takeshita³, Akiyoshi Takami⁴, Hidefumi Kato¹.

Abstract

Entities: Gene Mutation

Mesh：

Substances：
ABO Blood-Group System

Year: 2016 PMID： 26841695 DOI： 10.1111/trf.13507

Source DB: PubMed Journal: Transfusion ISSN： 0041-1132 Impact factor: 3.157

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1 in total

1. Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes.

Authors: Xiaozhen Hong; Yanling Ying; Jingjing Zhang; Shu Chen; Xianguo Xu; Ji He; Faming Zhu
Journal: J Transl Med Date: 2021-11-22 Impact factor: 5.531

1 in total