A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease
Liu L, Luo H, Sheng Y, Kang X, Peng H, Luo H, Fan L. A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease. Hereditas 2023, 160: 37. PMID: 37978541, PMCID: PMC10656953, DOI: 10.1186/s41065-023-00299-4.Peer-Reviewed Original ResearchMeSH KeywordsEast Asian PeopleHumansLung Diseases, InterstitialMutationTelomereTelomere ShorteningTelomere-Binding ProteinsConceptsInterstitial lung diseaseLung diseaseAffected family membersHeterozygous mutationsChronic interstitial lung diseasePulmonary diffusion functionPulmonary lung diseaseWhole-exome sequencingTelomere structure integrityProgressive dyspneaReal-time PCRCTC1 geneGene mutationsInsidious onsetInterstitial pneumoniaGenetic lesionsMutation spectrumInterstitial tissueEpidemiological dataPatientsChinese familyTelomere shorteningDiseaseCTC1Family members