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

Tozawa, Yusuke; 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

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

Tozawa, Yusuke; 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.

Afiliación

Tozawa Y; Department of Pediatrics, Division of Medicine, Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Abdrabou SSMA; Department of Pediatrics, Division of Medicine, Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Nogawa-Chida N; Department of Pediatrics, Division of Medicine, Graduate School of Medicine, Hokkaido University, Sapporo, Japan; Department of Dentistry for Children and Disabled Persons, Hokkaido University Graduate School of Dental Medicine, Sapporo, Japan.
Nishiuchi R; Department of Pediatrics, Kochi Health Sciences Centre, Kochi, Japan.
Ishida T; Department of Hematology and Oncology, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan.
Suzuki Y; Department of Pediatrics, Fukushima Medical University School of Medicine, Fukushima, Japan.
Sano H; Department of Pediatric Oncology, Fukushima Medical University Hospital, Fukushima, Japan.
Kobayashi R; Department of Pediatrics, Sapporo Hokuyu Hospital, Sapporo, Japan.
Kishimoto K; Department of Pediatrics, Sapporo Hokuyu Hospital, Sapporo, Japan.
Ohara O; Department of Human Genome Technology, Kazusa DNA Research Institute, Chiba, Japan.
Imai K; Department of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Naruto T; Department of Pediatrics and Developmental Biology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
Kobayashi K; Department of Pediatrics, Sapporo Hokuyu Hospital, Sapporo, Japan.
Ariga T; Department of Pediatrics, Faculty of Medicine, Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Yamada M; Department of Pediatrics, Faculty of Medicine, Graduate School of Medicine, Hokkaido University, Sapporo, Japan. Electronic address: yamadam@med.hokudai.ac.jp.

Clin Immunol ; 208: 108256, 2019 11.

Article en En | MEDLINE | ID: mdl-31494288

Asunto(s)

Deficiencia de Ácido Fólico/genética; Síndromes de Malabsorción/genética; Transportador de Folato Acoplado a Protón/genética; Pueblo Asiatico/genética; Femenino; Humanos; Lactante; Masculino; Mutación

Palabras clave

Deep intronic mutation; Hereditary folate malabsorption (HFM); Megaloblastic anemia; Proton-coupled folate transporter (PCFT); SLC46A1

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Transportador de Folato Acoplado a Protón / Deficiencia de Ácido Fólico / Síndromes de Malabsorción Límite: Female / Humans / Infant / Male Idioma: En Revista: Clin Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2019 Tipo del documento: Article País de afiliación: Japón

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