First heterozygous NOP10 mutation in familial pulmonary fibrosis

Eur Respir J. 2020 Jun 11;55(6):1902465. doi: 10.1183/13993003.02465-2019. Print 2020 Jun.

Caroline Kannengiesser^{1

2

3

4}, Effrosyni D Manali^{5

4}, Patrick Revy⁶, Isabelle Callebaut⁷, Ibrahima Ba^{1

2

3}, Adrien Borgel^{1

2}, Claire Oudin^{1

2}, Aggeliki Haritou^{8

9}, Lykourgos Kolilekas¹⁰, Katerina Malagari¹¹, Raphael Borie^{3

12}, Elodie Lainey¹³, Catherine Boileau^{1

2}, Bruno Crestani^{12

3

4}, Spyros A Papiris^{8

4}

¹ APHP Service de Génétique, Hôpital Bichat, Paris, France.
² Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
³ INSERM UMR 1152, Université de Paris, Paris, France.
⁴ These authors contributed equally to this work.
⁵ 2nd Pulmonary Medicine Dept, General University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, Athens, Greece fmanali@otenet.gr.
⁶ INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, labéllisé Ligue contre le cancer, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
⁷ Sorbonne Université, Muséum National d'Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris, France.
⁸ 2nd Pulmonary Medicine Dept, General University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, Athens, Greece.
⁹ Ioannina, Greece.
¹⁰ 7th Pulmonary Dept, Athens Chest Hospital "Sotiria", Athens, Greece.
¹¹ 2nd Dept of Radiology, General University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, Athens, Greece.
¹² APHP, Hôpital Bichat, Service de Pneumologie A, DHU FIRE, Centre de référence des maladies pulmonaires rares, Paris, France.
¹³ Service d'Hématologie Biologique, Hôpital Robert Debré- APHP, UMRS_1131- Institut Universitaire d'Hématologie, Paris, France.

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