<i>ABCA3</i> c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: A Family Case Study and Literature Review

<i>ABCA3</i> c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: A Family Case Study and Literature Review

<b>Background:</b> Respiratory distress syndrome (RDS) is the primary cause of respiratory failure in preterm infants, but it also affects 5–7% of term infants. Dysfunctions in pulmonary surfactant metabolism, resulting from mutations of the lung surfactant genes, are rare diseases, rang...

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Main Authors: Maria Livia Ognean, Mădălina Anciuc-Crauciuc, Radu Galiș, Alex-Emilian Stepan, Mioara Desdemona Stepan, Claudia Bănescu, Florin Grosu, Boris W. Kramer, Manuela Cucerea
Format: Article
Language:English
Published: MDPI AG 2024-10-01
Series:Biomedicines
Subjects:
<i>ABCA3</i> c.838C>T
<i>ABCA3</i> p.Arg280Cys
<i>ABCA3</i> R280C
<i>ABCA3</i> c.697C>T
<i>ABCA3</i> p.Gln233Ter
<i>ABCA3</i> Q233X
Online Access:https://www.mdpi.com/2227-9059/12/10/2390
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