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Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

17 Apr 2019

Abstract excerpt

BACKGROUND: Telomeres are nucleoprotein structures present at the terminal region of the chromosomes. Mutations in genes coding for proteins involved in telomere maintenance are causative of a number of disorders known as telomeropathies. The genetic origin of these diseases is heterogeneous and has not been determined for a significant proportion of patients. METHODS: This article describes the genetic...

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Share to Genomics and Chromatin Dynamics
Share to Hemoglobinopathies and Related Disorders
Share to Telomeres, Telomerase, and Senescence

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PMID: 30995915
DOI: 10.1186/s13023-019-1046-0

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