A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain

Mucolipidosis (ML) II and ML IIIα/β are allelic autosomal recessive metabolic disorders due to mutations in GNPTAB. The gene encodes the enzyme UDP-GlcNAc-1-phosphotransferase (GNPT), which is critical to proper trafficking of lysosomal acid hydrolases. The ML phenotypic spectrum is dichotomous. Cri...

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Hlavní autoři: Leroy, Jules G, Sillence, David, Wood, Tim, Barnes, Jarrod, Lebel, Robert Roger, Friez, Michael J, Stevenson, Roger E, Steet, Richard, Cathey, Sara S
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3992569/
https://ncbi.nlm.nih.gov/pubmed/24045841
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.207
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