Condition: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
rs121918661
in
TERT
gene and
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
PMID 15814878
2005 Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.
PMID 17460043
2007 Adult-onset pulmonary fibrosis caused by mutations in telomerase.
PMID 21483807
2011 Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.
PMID 21436073
2011 Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.
PMID 22512499
2012 Pulmonary fibrosis, bone marrow failure, and telomerase mutation.
PMID 29483670
2018 Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.