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A Novel POLG Gene Mutation in 4 Children With Alpers-like Hepatocerebral Syndromes
OBJECTIVE: To describe a novel POLG missense mutation (c.3218C>T; p.P1073L) that, in association with 2 previously described mutations, caused an Alpers-like hepatocerebral syndrome in 4 children. DESIGN: Genotype-phenotype correlation. SETTING: Tertiary care universities. PATIENTS: Four children...
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| Autors principals: | , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2010
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3826985/ https://ncbi.nlm.nih.gov/pubmed/20142534 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneurol.2009.332 |
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