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Your search keyword '"Wang, Rong-Yue"' showing total 1 results
Start Over Author "Wang, Rong-Yue" Topic genetic mutation Publication Year Range Last 50 years
1 results on '"Wang, Rong-Yue"'

1. Mild α-Thalassemia Caused by a Mosaic α-Globin Gene Mutation.

Author

Wang, Rong-Yue, Jiang, Fan, Xu, Li-Li, and Li, Dong-Zhi

Subjects
*GENETIC mutation, *PHENOTYPES, *MOSAICISM
Abstract

We describe a new α-globin chain variant in a Chinese subject. This novel variant, with a Val→Met substitution at codon 93 of the α-globin chain, has been named Hb Qingcheng (HBA1: c.280G>A) for where the proband was born. A woman with somatic mosaicism for Hb Qingcheng presented with the phenotype of mild α-thalassemia (α-thal). [ABSTRACT FROM AUTHOR]

Published
2021
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