GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report

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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Bibliographic Details
Main Authors: Chi-Chun Ho, Lilian Li-Yan Tsung, Kam-Tim Liu, Wing-Tat Poon
Format: Article
Language:English
Published: BMC 2018-09-01
Series:BMC Medical Genetics
Subjects:
Mucolipidosis III alpha/beta
Pseudo-hurler polydystrophy
GlcNAc-1-phosphotransferase
GNPTAB
Nonsense variant
P.Q802*
Online Access:http://link.springer.com/article/10.1186/s12881-018-0679-5

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