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Hereditary folate malabsorption due to a mutation in the external gate of the proton-coupled folate transporter SLC46A1
Hereditary folate malabsorption (HFM) is an autosomal recessive disorder characterized by impaired intestinal folate absorption and impaired folate transport across the choroid plexus due to loss of function of the proton-coupled folate transporter (PCFT-SLC46A1). We report a novel mutation, causing...
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| Publicado en: | Blood Adv |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
American Society of Hematology
2018
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5761628/ https://ncbi.nlm.nih.gov/pubmed/29344585 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2017012690 |
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