Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene-Reference-Cited by-同舟云学术

Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene

Published:2020-11-07 Issue:2 Volume:100 Page:353-364
ISSN:0939-5555
Container-title:Annals of Hematology
language:en
Short-container-title:Ann Hematol

Author:

Méndez Manuel^ORCID,Moreno-Carralero María Isabel,Peri Valeria L.,Camacho-Galán Rafael^ORCID,Bosch-Benítez José M.,Huerta-Aragonés Jorge^ORCID,Sánchez-Calero-Guilarte Jorge,Moreno-Risco María Belén,Alonso-Domínguez Juan Manuel^ORCID,Morán-Jiménez María José^ORCID

Funder

Fundación Investigación Biomédica Mutua Madrileña

Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), programa de fomento I+D+I, proyectos de investigación clínica

Publisher

Springer Science and Business Media LLC

Subject

Hematology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00277-020-04319-5.pdf

Reference49 articles.

1. Gambale A, Iolascon A, Andolfo I, Russo R (2016) Diagnosis and management of congenital dyserythropoietic anemias. Expert Rev Hematol 9(3):283–296

2. Babbs C, Roberts NA, Sanchez-Pulido L, McGowan SJ, Ahmed MR, Brown JM, Sabry MA, Consortium WGS, Bentley DR, McVean GA, Donnelly P, Gileadi O, Ponting CP, Higgs DR, Buckle VJ (2013) Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. Haematologica 98(9):1383–1387