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A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency
Creatine transporter (CT) deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. We describe a clinical, biochemical and molecular examination of a child with X-linked cerebral creatine deficiency. Increased urinary creatine/creatinine ratio, abnormal brain proton magnetic resona...
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| Опубликовано в: : | Hum Genome Var |
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| Главные авторы: | , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Nature Publishing Group
2015
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4785581/ https://ncbi.nlm.nih.gov/pubmed/27081545 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.37 |
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