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The clinical course and genetic defect in the PCFT gene in a 27-year old woman with hereditary folate malabsorption
Two sequential homozygous mutations are demonstrated in the recently cloned proton-coupled folate transporter (PCFT) gene resulting in the absence of this protein in a 27 year old woman with hereditary folate malabsorption, who is normal in all respects and has completed higher education, following...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2008
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3835188/ https://ncbi.nlm.nih.gov/pubmed/18718264 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2008.04.009 |
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