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A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption

Hereditary Folate Malabsorption (OMIM 229050) is a rare autosomal recessive disorder caused by loss-of-function mutations in the proton-coupled folate transporter gene (PCFT/SLC46A1) resulting in impaired folate transport across the intestine and into the central nervous system. We report a novel, h...

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書誌詳細
主要な著者: Diop-Bove, N, Jain, M., Scaglia, F., Goldman, I.D.
フォーマット: Artigo
言語:Inglês
出版事項: 2013
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3836604/
https://ncbi.nlm.nih.gov/pubmed/23816405
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2013.06.039
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