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, Abdrabou SSMA, Nogawa-Chida N, Nishiuchi R, Ishida T, Suzuki Y, Sano H, Kobayashi R, Kishimoto K, Ohara O, et al. Clin Immunol. 2019 Nov; 208:108256. Epub 2019 Sep 5.