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First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene
Phosphofructokinase deficiency is a very rare autosomal recessive disorder, which belongs to group of rare inborn errors of metabolism called glycogen storage disease. Here we report on a new mutation in the phosphofructokinase (PFK) gene PFKM identified in a 65-years-old woman who suffered from lif...
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| Hauptverfasser: | , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Frontiers Media S.A.
2013
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3875906/ https://ncbi.nlm.nih.gov/pubmed/24427140 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fphys.2013.00393 |
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