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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Detalhes bibliográficos
Main Authors: Atabay, Berna, Turker, Meral, Ozer, Esra Arun, Mahadeo, Kris, Diop-Bove, Ndeye, Goldman, I. David
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha: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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