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Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption

Hereditary folate malabsorption (HFM) is an autosomal recessive disorder, recently shown to be due to loss-of-function mutations of the proton-coupled folate transporter (PCFT-SLC46A1), resulting in systemic and central nervous system folate deficiency. Data is emerging on the spectrum of PCFT mutat...

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Dettagli Bibliografici
Autori principali: Shin, Daniel Sanghoon, Mahadeo, Kris, Min, Sang Hee, Diop-Bove, Ndeye, Clayton, Peter, Zhao, Rongbao, Goldman, I. David
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2011
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3081934/
https://ncbi.nlm.nih.gov/pubmed/21333572
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.01.008
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