A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia-Reference-Cited by-同舟云学术

A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia

Published:2020-06-25 Issue:26 Volume:135 Page:2427-2431
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Svaton Michael¹^ORCID,Skvarova Kramarzova Karolina¹^ORCID,Kanderova Veronika¹,Mancikova Andrea²^ORCID,Smisek Petr³,Jesina Pavel⁴,Krijt Jakub⁴^ORCID,Stiburkova Blanka⁴⁵^ORCID,Dobrovolny Robert⁴^ORCID,Sokolova Jitka⁴^ORCID,Bakardjieva-Mihaylova Violeta¹,Vodickova Elena⁶,Rackova Marketa¹,Stuchly Jan¹,Kalina Tomas¹^ORCID,Stary Jan³,Trka Jan¹,Fronkova Eva¹^ORCID,Kozich Viktor⁴^ORCID

Affiliation:

1. Childhood Leukemia Investigation Prague, Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic;

2. Department of Cell Biology, Faculty of Science, Charles University, Prague, Czech Republic;

3. Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic;

4. Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic;

5. Institute of Rheumatology, Prague, Czech Republic; and

6. Department of Clinical Hematology, University Hospital Motol, Prague, Czech Republic

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/135/26/2427/1745398/bloodbld2019003178r2.pdf

Reference20 articles.

1. One-carbon metabolism in cancer;Newman;Br J Cancer,2017

2. Absorption and blood/cellular transport of folate and cobalamin: Pharmacokinetic and physiological considerations;Alpers;Biochimie,2016

3. The human reduced folate carrier gene is ubiquitously and differentially expressed in normal human tissues: identification of seven non-coding exons and characterization of a novel promoter;Whetstine;Biochem J,2002