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A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption
Hereditary Folate Malabsorption (OMIM 229050) is a rare autosomal recessive disorder caused by loss-of-function mutations in the proton-coupled folate transporter gene (PCFT/SLC46A1) resulting in impaired folate transport across the intestine and into the central nervous system. We report a novel, h...
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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2013
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3836604/ https://ncbi.nlm.nih.gov/pubmed/23816405 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2013.06.039 |
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