Hereditary folate malabsorption
Definition:
References:
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[1]. Andong Qiu, et al. Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. Cell. 2006 Dec 1;127(5):917-28. [Content Brief]
[2]. Inbal Lasry, et al. A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function. Blood. 2008 Sep 1;112(5):2055-61. [Content Brief]
[3]. Inbal Lasry, et al. Hereditary folate malabsorption: a positively charged amino acid at position 113 of the proton-coupled folate transporter (PCFT/SLC46A1) is required for folic acid binding. Biochem Biophys Res Commun. 2009 Aug 28;386(3):426-31. [Content Brief]
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