Article

A novel mutation (c.705C>A (p.C235*) (p.Cys235Ter)) in the SFTPB gene that causes severe respiratory failure in a term newborn.

2024-01-31

Abstract excerpt

Surfactants are surface-active agents lowering surface tension in the airways of the lung. It plays an important role on pulmonary function. Surfactant proteins constitute 10 percent of the surfactant molecule. Mutations in genes encoding surfactant proteins can be fatal. Surfactant protein B gene mutation accounts for 50 percent of the cases that underwent lung transplantation for the treatment of severe respirat...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2b7b3c08-746f-5577-b55a-574c20ae99e6
DOI: 10.22541/au.170669002.28407285/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A novel mutation (c.705C>A (p.C235*) (p.Cys235Ter)) in the SFTPB gene that causes severe respiratory failure in a term newborn.DOI 10.22541/au.170669002.28407285/v1Read

ABCA3 c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: a Review of the Literature and Family Case StudySemantic proximity Read

Pediatric Case Report on an Interstitial Lung Disease with a Novel Mutation of SFTPC Successfully Treated with Lung Transplantation.Semantic proximity Read

Genetic Disorders of Surfactant DysfunctionSemantic proximity Read

A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy.Semantic proximity Read

Severe Neonatal Interstitial Lung Disease Caused by a Rare Surfactant Protein C Mutation.Semantic proximity Read

Surfactant protein B deficiency caused by a novel mutation involving multiple exons of the SP-B gene.Semantic proximity Read

Surfactant protein disorders in childhood interstitial lung disease.Semantic proximity Read

Towards personalized therapies for genetic disorders of surfactant dysfunction.Semantic proximity Read

[Genetic disorders of surfactant].Semantic proximity Read

Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report.Semantic proximity Read

Child Interstitial Lung Disease in an Infant with Surfactant Protein C Dysfunction due to c.202G>T Variant (p.V68F).Semantic proximity Read

Persistent Respiratory Distress in the Term Neonate: Genetic Surfactant Deficiency DiseasesSemantic proximity Read