Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants.
Blood
; 127(15): 1856-62, 2016 Apr 14.
Article
em En
| MEDLINE
| ID: mdl-26903544
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Eritrócitos
/
Eritropoese
/
Fatores de Transcrição Kruppel-Like
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article