Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype

Mucolipidosis II and III alpha/beta (ML II/III alpha/beta) are rare autosomal recessive lysosomal storage diseases that are caused by a deficiency of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase, the enzyme responsible for the synthesis of the mannose 6-phosphate targeting si...

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Bibliographic Details
Main Authors: F. Sperb-Ludwig, T. Alegra, R.V. Velho, N. Ludwig, C.A. Kim, F. Kok, J.P. Kitajima, E. van Meel, S. Kornfeld, M.G. Burin, I.V.D. Schwartz
Format: Article
Language:English
Published: Elsevier 2015-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mucolipidosis II/III alpha/beta
Whole exome sequencing
Molecular diagnosis
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000809

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http://www.sciencedirect.com/science/article/pii/S2214426914000809

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