A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM)

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Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 208(2019) vom: 01. Nov., Seite 108256
1. Verfasser: Tozawa, Yusuke (VerfasserIn)
Weitere Verfasser: Abdrabou, Shimaa Said Mohamed Ali, Nogawa-Chida, Natsuko, Nishiuchi, Ritsuo, Ishida, Toshiaki, Suzuki, Yuichi, Sano, Hideki, Kobayashi, Ryoji, Kishimoto, Kenji, Ohara, Osamu, Imai, Kohsuke, Naruto, Takuya, Kobayashi, Kunihiko, Ariga, Tadashi, Yamada, Masafumi
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2019
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Journal Article Research Support, Non-U.S. Gov't Deep intronic mutation Hereditary folate malabsorption (HFM) Megaloblastic anemia Proton-coupled folate transporter (PCFT) SLC46A1 Proton-Coupled Folate Transporter SLC46A1 protein, human