一名患有儿童期ILD并活到成年的患者存在双等位基因错义突变。
Bi-allelic missense mutations in a patient with childhood ILD who reached adulthood.
作者信息
Manali Effrosyni D, Legendre Marie, Nathan Nadia, Kannengiesser Caroline, Coulomb-L'Hermine Aurore, Tsiligiannis Theofanis, Tomos Pericles, Griese Matthias, Borie Raphael, Clement Annick, Amselem Serge, Crestani Bruno, Papiris Spyros A
机构信息
2nd Pulmonary Medicine Dept, General University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, Athens, Greece.
These authors contributed equally.
出版信息
ERJ Open Res. 2019 Jul 22;5(3). doi: 10.1183/23120541.00066-2019. eCollection 2019 Jul.
Abstract
摘要
http://bit.ly/2LzMNOE. （这是一个网址，直接保留原文形式即可，因为没有实际可翻译的文字内容）
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