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Novel CLN1 mutation with atypical juvenile neuronal ceroid lipofuscinosis
We detected a novel CLN1 gene mutation (p.Arg151X, heterogenous) in a 12-year-old boy. Low level of palmitoyl protein thioesterase and granular inclusion pattern in lymphocytes were also consistent with infantile Neuronal ceroid lipofuscinosis (INCL). However, the clinical phenotype was that of atyp...
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| Autores principales: | , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2013
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3680897/ https://ncbi.nlm.nih.gov/pubmed/23772246 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1817-1745.111424 |
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