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Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders
Hypomorphic mutations in six different genes involved in the glycosylphosphatidylinositol (GPI) biogenesis pathway are linked to Mabry syndrome (hyperphosphatasia with mental retardation syndrome, HPMRS). This report on the third affected family with a HPMRS phenotype caused by mutations in PIGL, co...
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| Опубликовано в: : | Mol Genet Metab Rep |
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| Главные авторы: | , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Elsevier
2018
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6047459/ https://ncbi.nlm.nih.gov/pubmed/30023290 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.01.007 |
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