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: Chi-Chun Ho (Author), Lilian Li-Yan Tsung (Author), Kam-Tim Liu (Author), Wing-Tat Poon (Author)
Format: Book
Published: BMC, 2018-09-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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