A New <i>ABCA3</i> Gene Mutation c.3445G&gt;A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome

A New <i>ABCA3</i> Gene Mutation c.3445G&gt;A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome

Mutations in adenosine triphosphate-binding cassette transporter A3 (<i>ABCA3</i>) (OMIM: 601615) gene constitute the most frequent genetic cause of severe neonatal respiratory distress syndrome (RDS) and interstitial lung disease (ILD) in children. Interstitial lung disease in children...

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Bibliographic Details
Main Authors: Georgios Mitsiakos, Christos Tsakalidis, Paraskevi Karagianni, Dimitra Gialamprinou, Ilias Chatziioannidis, Ioannis Papoulidis, Ioannis Tsanakas, Vasiliki Soubasi
Format: Article
Language:English
Published: MDPI AG 2019-07-01
Series:Medicina
Subjects:
surfactant deficiency
<i>ABCA3</i> gene mutation
neonatal respiratory distress syndrome
medical treatment
Online Access:https://www.mdpi.com/1010-660X/55/7/389

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https://www.mdpi.com/1010-660X/55/7/389

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