Associated Papers
A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM).
Tozawa Y et al.
Clinical Immunology (orlando, Fla.), 2019
The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.
Zhao R et al.
Molecular Aspects of Medicine, 2017
Impact of folate therapy on combined immunodeficiency secondary to hereditary folate malabsorption.
Kishimoto K et al.
Clinical Immunology (orlando, Fla.), 2014
Identification of a functionally critical GXXG motif and its relationship to the folate binding site of the proton-coupled folate transporter (PCFT-SLC46A1).
Zhao R et al.
American Journal of Physiology. Cell Physiology, 2012
Select a paper to view details