GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report
Abstract Background Mucolipidosis alpha/beta is an inborn error of metabolism characterized by deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta subunits are encoded by the GNPTAB gene. The autosomal recessive condition is due to disruptions of hydrolase mannose 6-phosphate ma...
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| Main Authors: | , , , |
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| Format: | Book |
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BMC,
2018-09-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |