Please use this identifier to cite or link to this item:
https://www.um.edu.mt/library/oar/handle/123456789/99115
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Perkins, Andrew | - |
dc.contributor.author | Xu, Xiangmin | - |
dc.contributor.author | Higgs, Douglas R. | - |
dc.contributor.author | Patrinos, George P. | - |
dc.contributor.author | Arnaud, Lionel | - |
dc.contributor.author | Bieker, James J. | - |
dc.contributor.author | Philipsen, Sjaak | - |
dc.contributor.author | Borg, Joseph J. | - |
dc.date.accessioned | 2022-07-12T07:35:50Z | - |
dc.date.available | 2022-07-12T07:35:50Z | - |
dc.date.issued | 2016 | - |
dc.identifier.citation | Perkins, A., Xu, X., Higgs, D. R., Patrinos, G. P., Arnaud, L., Bieker, J. J., ... & KLF1 Consensus Workgroup. (2016). Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants. Blood: The Journal of the American Society of Hematology, 127(15), 1856-1862. | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar/handle/123456789/99115 | - |
dc.description.abstract | Until recently our approach to analyzing human genetic diseases has been to accurately phenotype patients and sequence the genes known to be associated with those phenotypes; for example, in thalassemia, the globin loci are analyzed. Sequencing has become increasingly accessible, and thus a larger panel of genes can be analyzed and whole exome and/or whole genome sequencing can be used when no variants are found in the candidate genes. By using such approaches in patients with unexplained anemias, we have discovered that a broad range of hitherto unrelated human red cell disorders are caused by variants in KLF1, a master regulator of erythropoiesis, which were previously considered to be extremely rare causes of human genetic disease. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | The American Society of Hematology | en_GB |
dc.rights | info:eu-repo/semantics/restrictedAccess | en_GB |
dc.subject | Hypovolemic anemia | en_GB |
dc.subject | Blood group antigens -- Genetics | en_GB |
dc.subject | Erythrocytes -- Biotechnology | en_GB |
dc.subject | Exomes | en_GB |
dc.subject | Genetic regulation | en_GB |
dc.subject | Hemoglobinopathy -- Diagnosis | en_GB |
dc.subject | Pyruvate kinase | en_GB |
dc.title | Krüppeling erythropoiesis : an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants | en_GB |
dc.type | article | en_GB |
dc.rights.holder | The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder | en_GB |
dc.contributor.corpauthor | Klf1 Consensus and Workgroup | en_GB |
dc.description.reviewed | peer-reviewed | en_GB |
dc.identifier.doi | 10.1182/blood-2016-01-694331 | - |
dc.publication.title | Blood : The Journal of the American Society of Hematology | en_GB |
Appears in Collections: | Scholarly Works - FacHScABS |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
Krüppeling_erythropoiesis.pdf Restricted Access | 1.11 MB | Adobe PDF | View/Open Request a copy |
Items in OAR@UM are protected by copyright, with all rights reserved, unless otherwise indicated.