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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Foilsithe in:Mol Genet Metab Rep
Main Authors: Sperb-Ludwig, F., Alegra, T., Velho, R.V., Ludwig, N., Kim, C.A., Kok, F., Kitajima, J.P., van Meel, E., Kornfeld, S., Burin, M.G., Schwartz, I.V.D.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Elsevier 2014
Ábhair:
The Lysosome
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5471150/
https://ncbi.nlm.nih.gov/pubmed/28649523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.12.001
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