Dyserythropoietic anaemia with an intronic
Diamond‐Blackfan anaemia (DBA)
GATA1
dyserythropoietic anaemia
inherited bone marrow failure syndrome (IBMFS)
intronic mutation
Journal
EJHaem
ISSN: 2688-6146
Titre abrégé: EJHaem
Pays: United States
ID NLM: 101761942
Informations de publication
Date de publication:
Feb 2022
Feb 2022
Historique:
received:
22
11
2021
revised:
08
12
2021
accepted:
10
12
2021
entrez:
18
7
2022
pubmed:
19
7
2022
medline:
19
7
2022
Statut:
epublish
Résumé
Diamond-Blackfan anaemia (DBA) shares clinical features with two recently reported sporadic cases of dyserythropoietic anaemia with a cryptic
Identifiants
pubmed: 35846220
doi: 10.1002/jha2.374
pii: JHA2374
pmc: PMC9175706
doi:
Types de publication
Journal Article
Langues
eng
Pagination
163-167Informations de copyright
© 2022 The Authors. eJHaem published by British Society for Haematology and John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
Références
Nat Genet. 1999 Feb;21(2):169-75
pubmed: 9988267
Haematologica. 2017 Mar;102(3):e93-e96
pubmed: 27909223
Blood Rev. 2010 May;24(3):101-22
pubmed: 20417588
Blood. 2020 Sep 10;136(11):1262-1273
pubmed: 32702755
J Exp Med. 2019 May 6;216(5):1050-1060
pubmed: 30914438
Blood. 2010 Nov 25;116(22):4631-8
pubmed: 20729467
Am J Med Genet A. 2014 Sep;164A(9):2240-9
pubmed: 24942156
J Clin Invest. 2012 Jul;122(7):2439-43
pubmed: 22706301
Blood Cells Mol Dis. 2016 Jul;59:31-6
pubmed: 27282564
Br J Haematol. 2013 Feb;160(4):547-54
pubmed: 23252420
Nucleic Acids Res. 1996 Sep 1;24(17):3439-52
pubmed: 8811101
Br J Haematol. 2015 Mar;168(6):854-64
pubmed: 25424902
J Mol Biol. 1991 Jul 5;220(1):49-65
pubmed: 2067018
Blood. 2017 Apr 13;129(15):2103-2110
pubmed: 28179280
Am J Hum Genet. 2018 Dec 6;103(6):930-947
pubmed: 30503522