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MUTATION OF THE PROTON-COUPLED FOLATE TRANSPORTER GENE (PCFT-SLC46A1) IN TURKISH SIBLINGS WITH HEREDITARY FOLATE MALABSORPTION
Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder characterized by systemic and central nervous system folate deficiency. Turkish siblings are reported with the clinical syndrome of HFM, homozygous for deletion of 2 bases (c.204_205 delCC) within the first exon of the prot...
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| Glavni autori: | , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2010
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3885236/ https://ncbi.nlm.nih.gov/pubmed/20795774 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/08880018.2010.481705 |
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