Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood

Children with ABCA3 mutations may survive beyond infancy and reach adulthood. Genetic mechanisms should always be examined in adult patients with childhood onset ILD and molecular analysis should be performed accordingly in specialised referral centres. http://bit.ly/2LzMNOE

Detalles Bibliográficos
Autores principales: Manali, Effrosyni D., Legendre, Marie, Nathan, Nadia, Kannengiesser, Caroline, Coulomb-L'Hermine, Aurore, Tsiligiannis, Theofanis, Tomos, Pericles, Griese, Matthias, Borie, Raphael, Clement, Annick, Amselem, Serge, Crestani, Bruno, Papiris, Spyros A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: European Respiratory Society 2019
Materias:
Original Research Letter
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6646961/
https://www.ncbi.nlm.nih.gov/pubmed/31360696
http://dx.doi.org/10.1183/23120541.00066-2019

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