Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees!

Even in the absence of liver disease, MARS1 screening should be considered in severe lung fibrosis of young individuals. Interpretation of the genetic variants can evolve with improvement of knowledge (databases, bioinformatic tools) over time. https://bit.ly/45OxF5E

Detalles Bibliográficos
Autores principales: Castaldo, Alice, Delestrain, Celine, Diesler, Rémi, Merveilleux du Vignaux, Claire, Onnee, Marion, Touraine, Renaud, Chalabreysse, Lara, Fanen, Pascale, Epaud, Ralph, Cottin, Vincent, De Becdelièvre, Alix
Formato: Online Artículo Texto
Lenguaje:English
Publicado: European Respiratory Society 2023
Materias:
Research Letters
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10626413/
https://www.ncbi.nlm.nih.gov/pubmed/37936900
http://dx.doi.org/10.1183/23120541.00472-2023

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