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Batten disease caused by a novel mutation in the PPT1 gene
PURPOSE: To report a case of Batten disease due to a previously unreported mutation in PPT1. METHODS: A nine-year old female presented with classic clinical findings of Batten Disease. RESULTS: Genetic testing for the mutations in the most common Batten disease gene, CLN3, was negative. Evaluation o...
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| Vydáno v: | Retin Cases Brief Rep |
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| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4851602/ https://ncbi.nlm.nih.gov/pubmed/26510000 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/ICB.0000000000000227 |
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