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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.

DOI:10.1183/23120541.00066-2019
PMID:31360696
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6646961/
Abstract

http://bit.ly/2LzMNOE.

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）

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4aa9/6646961/f01cfb683ac4/00066-2019.01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4aa9/6646961/f01cfb683ac4/00066-2019.01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4aa9/6646961/f01cfb683ac4/00066-2019.01.jpg

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