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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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Bibliografische gegevens
Gepubliceerd in:Blood Adv
Hoofdauteurs: Aluri, Srinivas, Zhao, Rongbao, Lubout, Charlotte, Goorden, Susanna M. I., Fiser, Andras, Goldman, I. David
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society of Hematology 2018
Onderwerpen:
Online toegang: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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