TY - JOUR TI - First heterozygous NOP10 mutation in familial pulmonary fibrosis AU - Kannengiesser, C. AU - Kannengiesser, C. AU - Kannengiesser, C. AU - Manali, E.D. AU - Revy, P. AU - Callebaut, I. AU - Ba, I. AU - Ba, I. AU - Ba, I. AU - Borgel, A. AU - Borgel, A. AU - Oudin, C. AU - Oudin, C. AU - Haritou, A. AU - Haritou, A. AU - Kolilekas, L. AU - Malagari, K. AU - Borie, R. AU - Borie, R. AU - Lainey, E. AU - Boileau, C. AU - Boileau, C. AU - Crestani, B. AU - Crestani, B. AU - Papiris, S.A. JO - European Respiratory Journal PY - 2020 VL - 55 TODO - 6 SP - null PB - European Respiratory Society SN - 0903-1936, 1399-3003 TODO - 10.1183/13993003.02465-2019 TODO - fish protein; telomerase; NOP10 protein, human; small nucleolar ribonucleoprotein, ACD gene; aged; brother; clinical article; DKC1 gene; epigenetics; familial pulmonary fibrosis; female; flow cytometry; gene; gene identification; gene mutation; heritability; heterozygosity; human; Letter; leukemia; leukopenia; liver cirrhosis; lung fibrosis; missense mutation; NAF1 gene; NHP2 gene; NOP10 gene; onset age; PARN gene; priority journal; protein blood level; protein structure; RTEL1 gene; SHQ1 gene; sibling; sister; telomere length; TERC gene; TERT gene; TINF2 gene; whole exome sequencing; WRAP53 gene; ZCCHC8 gene; genetics; heterozygote; lung fibrosis; mutation, Heterozygote; Humans; Mutation; Pulmonary Fibrosis; Ribonucleoproteins, Small Nucleolar TODO - null ER -