Literature DB >> 26754300

The Codon 35 (A > G) (HBB: c.107A > G) at the α-β Chain Interface of the β-Globin Gene: A Silent Mutation?

Man-Yu Wu1, Dong-Zhi Li1.   

Abstract

Tyr35β is located at the convergence of the α1β1, α1β2 and α1α2 interfaces of Hb A. We here report a Chinese family in whom the codon 35 (A > G) (HBB: c.107A > G) mutation of the β-globin gene was not associated with the thalassemic phenotype previously described.

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Keywords:  codon 35; mutation; β-globin gene

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Year:  2015        PMID: 26754300     DOI: 10.3109/03630269.2015.1099547

Source DB:  PubMed          Journal:  Hemoglobin        ISSN: 0363-0269            Impact factor:   0.849


  1 in total

1.  Five novel globin gene mutations identified in five Chinese families by next-generation sequencing.

Authors:  Jie Zhang; Meijuan Xie; Zhiyu Peng; Xiaoyan Zhou; Tingting Zhao; Chanchan Jin; Yuanlong Yan; Xiaohong Zeng; Dongmei Li; Yangjia Zhang; Jie Su; Na Feng; Jing He; Xiangmei Yao; Tao Lv; Baosheng Zhu
Journal:  Mol Genet Genomic Med       Date:  2021-10-28       Impact factor: 2.183

  1 in total

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