Phenotype and Genotype in Mucolipidoses II and III alpha/beta: A Study of 61 Probands

OBJECTIVES: Mucolipidoses II and III alpha/beta (ML II and ML III) are lysosomal disorders in which the essential mannose-6-phosphate recognition marker is not synthesized onto lysosomal hydrolases and other glycoproteins. The disorders are caused by mutations in GNPTAB, which encodes two of three s...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Cathey, Sara S., Leroy, Jules G., Wood, Tim, Eaves, Karisa, Simensen, Richard J., Kudo, Mariko, Stevenson, Roger E., Friez, Michael J.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2009
विषय:
Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3712854/
https://ncbi.nlm.nih.gov/pubmed/19617216
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2009.067736
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