Next-generation sequencing unravels homozygous mutation in...

Clinica Chimica Acta 2017 / 05 Vol. 468

Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPI c.1040G > A (p.Arg347His) causing hemolysis in an Indian infant

Jamwal, Manu, Aggarwal, Anu, Das, Anirban, Maitra, Arindam, Sharma, Prashant, Krishnan, Shekhar, Arora, Neeraj, Bansal, Deepak, Das, Reena
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Volume:
468
Language:
english
Journal:
Clinica Chimica Acta
DOI:
10.1016/j.cca.2017.02.012
Date:
May, 2017
File:
PDF, 441 KB
english, 2017
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