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A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia
M. Svaton, K. Skvarova Kramarzova, V. Kanderova, A. Mancikova, P. Smisek, P. Jesina, J. Krijt, B. Stiburkova, R. Dobrovolny, J. Sokolova, V. Bakardjieva-Mihaylova, E. Vodickova, M. Rackova, J. Stuchly, T. Kalina, J. Stary, J. Trka, E. Fronkova, V. Kozich
Jazyk angličtina Země Spojené státy americké
Typ dokumentu kazuistiky, dopisy, práce podpořená grantem
NLK
Free Medical Journals
od 1946 do Před 1 rokem
Freely Accessible Science Journals
od 1946 do Před 1 rokem
Open Access Digital Library
od 1946-01-01
Open Access Digital Library
od 1946-01-01
ROAD: Directory of Open Access Scholarly Resources
PubMed
32276275
DOI
10.1182/blood.2019003178
Knihovny.cz E-zdroje
- MeSH
- buněčné klony MeSH
- buňky K562 MeSH
- CRISPR-Cas systémy MeSH
- genový knockout MeSH
- homozygot MeSH
- hyperhomocysteinemie farmakoterapie genetika MeSH
- kultivované buňky MeSH
- kyselina listová terapeutické užití MeSH
- lidé MeSH
- megaloblastová anemie farmakoterapie genetika MeSH
- mladiství MeSH
- posunová mutace MeSH
- recidiva MeSH
- sekvenční delece MeSH
- sekvenování exomu MeSH
- sodíko-vodíkový výměnný transportér 1 nedostatek genetika MeSH
- vitamin B 12 terapeutické užití MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- Publikační typ
- dopisy MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
Department of Cell Biology Faculty of Science Charles University Prague Czech Republic
Department of Clinical Hematology University Hospital Motol Prague Czech Republic
Citace poskytuje Crossref.org
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