A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients
Abstract GlcNAc-1-phosphotransferase is a hexameric complex formed by subunits α, β, and γ, where the first two are encoded by the GNPTAB gene and the third by the GNPTG gene. Pathogenic variants identified in the GNPTAB gene cause the diseases Mucolipidosis II and III alpha/beta, which are severe a...
সংরক্ষণ করুন:
| প্রধান লেখক: | , , , , , , , , |
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| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
2021-04-01
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| মালা: | Journal of Inborn Errors of Metabolism and Screening |
| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100402&tlng=en |
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