TY - T1的第一个杂合的< em > NOP10 < / em >突变家族性肺纤维化JF -欧洲呼吸杂志》乔和J - 10.1183/13993003.02465 -2019欧元SP - 1902465 AU Kannengiesser卡罗琳盟,这里离马纳利市Effrosyni d . AU - Revy帕特里克AU - Callebaut,伊莎贝尔盟- Ba, Ibrahima盟——Borgel阿德里安·盟——奥丁,克莱尔盟——Haritou Aggeliki盟——Kolilekas Lykourgos盟——Malagari怀中盟——Borie拉斐尔盟——阳光、Elodie AU -波瓦洛,凯瑟琳AU -,伽马安基丁酸Bruno AU - Papiris, Spyros A. Y1 - 2020/01/01 UR - //www.qdcxjkg.com/content/early/2020/02/14/13993003.02465-2019.abstract N2 -生殖系端粒相关基因突变与家族性肺纤维化(PF)相关并导致短端粒综合征[1,2]。短端粒综合征相关基因TERT、TERC、DKC1、TINF2、NHP2、NOP10大多在早期出现黏膜皮肤表现和/或骨髓衰竭[3]的先天性角化不良患者中被检测到。端粒酶复合物包括TERT、TERC RNA和DKC1。NOP10与DKC1、NHP2和GAR1一起对TERC稳定和端粒维护至关重要[4]。纯合子NOP10突变(c.100C>T, p.Arg34Trp)仅在一个无肺纤维化的常染色体隐性角化不良先天性近亲家族中报道过1例。这篇手稿最近已被《欧洲呼吸杂志》接受发表。在我们的制作团队进行编辑和排版之前，它以其可接受的形式在这里发布。在这些生产过程完成并且作者批准了结果证明之后，本文将转移到最新一期的ERJ在线。请打开或下载PDF以查看本文。利益冲突:KANNENGIESSER博士没有什么可透露的。Conflict of interest: Dr. Manali reports personal fees and non-financial support from Boehringer Ingelheim, personal fees and non-financial support from ROCHE, during the conduct of the study.Conflict of interest: Dr. Revy has nothing to disclose.Conflict of interest: Dr. Callebaut has nothing to disclose.Conflict of interest: Dr. Ba has nothing to disclose.Conflict of interest: Dr. Borgel has nothing to disclose.Conflict of interest: Dr. OUDIN has nothing to disclose.Conflict of interest: Dr. Haritou has nothing to disclose.Conflict of interest: Dr. Kolilekas has nothing to disclose.Conflict of interest: Dr. Malagari has nothing to disclose.Conflict of interest: Dr. Borie reports grants and personal fees from Boerhniger Ingelheim, grants and personal fees from Roche, personal fees from Savapharma, outside the submitted work.Conflict of interest: Dr. Lainey has nothing to disclose.Conflict of interest: Dr. Boileau has nothing to disclose.Conflict of interest: Dr. CRESTANI reports personal fees from Astra Zeneca, grants, personal fees and non-financial support from Boehringer Ingelheim, personal fees and non-financial support from BMS, personal fees from Sanofi, grants, personal fees and non-financial support from Roche, outside the submitted work.Conflict of interest: Dr. Papiris reports personal fees and non-financial support from Boehringer Ingelheim, personal fees and non-financial support from ROCHE, during the conduct of the study. ER -