glutathione synthetase deficiency smear

glutathione synthetase deficiency smear Constitutional Hematopoietic Disorders Frontiers | Usefulness of NGS

Name: glutathione synthetase deficiency smear Constitutional Hematopoietic Disorders Frontiers | Usefulness of NGS
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Frontiers Usefulness of NGS for Diagnosis of Dominant Beta Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases Diagnosis and clinical management of enzymopathies PMC Glutathione ScienceDirect Nineteen year follow up of a patient with severe glutathione synthetase deficiency Journal of Human Genetics

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Description

Pham, M

These findings have not been replicated in human trials

The investigators found that [m]ost of the molecule could be altered with little effect on either [binding or biological activity]. In fact, only 23 unique amino acid sequences, out of more than 3,500 nucleotide sequences examined, produced a protein that significantly differed in activity from wild-type