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The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients
PMM2-CDG (MIM#212065) is the most common type of congenital disorders of glycosylation (CDG) caused by mutations in PMM2 (MIM#601785). In Estonia, five patients from three families have been diagnosed with PMM2-CDG. Our aim was to evaluate the presence of different PMM2-CDG-causing mutations in a po...
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| Publicado no: | JIMD Rep |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5953896/ https://ncbi.nlm.nih.gov/pubmed/28685491 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_41 |
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