Dominant Form of : A New Paradigm.
作者信息
Louvrier Camille, Crestani Bruno, Borie Raphaël
机构信息
Sorbonne Université, AP-HP, Unité de Génétique Moléculaire, Hôpital Trousseau et Inserm/Sorbonne Université UMRS933 Laboratoire des Maladies Génétiques d'expression pédiatrique, Hôpital Trousseau, Paris, France; and.
UMR Inserm 1149, CRI, Hôpital Bichat, AP-HP, Service de Pneumologie Allergologie et Transplantation, Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, FHU INFIRE, Université Paris Cité, Paris, France.
出版信息
Am J Respir Crit Care Med. 2025 Aug;211(8):1534-1535. doi: 10.1164/rccm.202503-0626LE.
Abstract
摘要
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本文引用的文献
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Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.儿童间质性肺疾病中的双等位基因LAMP3变异：一种与表面活性剂相关的疾病。
EBioMedicine. 2025 Mar;113:105626. doi: 10.1016/j.ebiom.2025.105626. Epub 2025 Feb 28.
2
Interstitial Lung Disease and Lung Cancer Associated with a Monoallelic Novel Variant in .间质性肺疾病和肺癌与……中的单等位基因新型变异相关
Am J Respir Crit Care Med. 2025 Jun;211(6):1085-1088. doi: 10.1164/rccm.202412-2411RL.
3
The Genetic Landscape of Familial Pulmonary Fibrosis.家族性肺纤维化的遗传学特征
Am J Respir Crit Care Med. 2023 May 15;207(10):1345-1357. doi: 10.1164/rccm.202204-0781OC.
4
Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis.全基因组测序在评估肺纤维化风险和临床相关结局中的效用。
Eur Respir J. 2022 Dec 22;60(6). doi: 10.1183/13993003.00577-2022. Print 2022 Dec.
5
A dominant negative variant of disrupts maturation of surfactant protein B and surfactant protein C.一种显性负变体的 会破坏表面活性剂蛋白 B 和表面活性剂蛋白 C 的成熟。
Proc Natl Acad Sci U S A. 2022 Feb 8;119(6). doi: 10.1073/pnas.2105228119.
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