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A novel MPV17 gene mutation in a Saudi infant causing fatal progressive liver failure
We describe in this report the clinical, biochemical, and molecular features of a Saudi infant with hepatocerebral MDS secondary to a novel homozygous mutation in the MPV17 gene. An automated sequencing of the nuclear MPV17 gene was performed. The coding region (7 exons) of the MPV17 gene was amplif...
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| Publicado no: | Ann Saudi Med |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
King Faisal Specialist Hospital and Research Centre
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6074855/ https://ncbi.nlm.nih.gov/pubmed/24894789 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5144/0256-4947.2014.175 |
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