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

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

Published:2019-11 Issue: Volume:208 Page:108256
ISSN:1521-6616
Container-title:Clinical Immunology
language:en
Short-container-title:Clinical Immunology

Author:

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

Funder

JSPS

Japanese Ministry of Health, Labor and Welfare

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference25 articles.

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2. The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption;Zhao;Blood.,2007

3. Hereditary folate malabsorption;Kronn,2017

4. Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter;Borzutzky;Clin. Immunol.,2009

5. The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: hereditary folate malabsorption;Zhao;Mol. Asp. Med.,2017

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2. Biology and therapeutic applications of the proton-coupled folate transporter;Expert Opinion on Drug Metabolism & Toxicology;2022-10-03

3. An infantile case of hereditary folate malabsorption with sudden development of pulmonary hemorrhage: a case report;Journal of Medical Case Reports;2022-06-30

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