Associated Papers
Clinical characteristics of SFTPC gene mutations in children: a single-center experience.
Yang T et al.
Italian Journal of Pediatrics, 2025
40890883 (PubMed )
Supplement: 13052_2025_2101_MOESM3_ESM.doc
TOLLIP acts as a cargo adaptor to promote lysosomal degradation of aberrant ER membrane proteins.
Hayashi Y et al.
The Embo Journal, 2023
37929762 (PubMed )
Supplement: EMBJ-42-e114272-s006.pdf
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_3.xlsx › Sheet1
The biology of the ABCA3 lipid transporter in lung health and disease.
Beers MF et al.
Cell and Tissue Research, 2017
A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy.
Litao MK et al.
Pediatric Pulmonology, 2017
Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.
Kröner C et al.
The European Respiratory Journal, 2015
Two novel mutations in surfactant protein-C, lung function and obstructive lung disease.
Baekvad-Hansen M et al.
Respiratory Medicine, 2010
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