Article ID Journal Published Year Pages File Type
5509916 Clinica Chimica Acta 2017 13 Pages PDF
Abstract
This study describes GPI p.Arg347His mutation for the first time from India and is the first report of red cell GPI deficiency diagnosed using NGS-based resequencing and highlights the potential of this technique in clinical practice.
Keywords
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
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