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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...
Tallennettuna:
| Päätekijät: | , , , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2009
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| Aiheet: | |
| Linkit: | 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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