Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood.
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ABSTRACT:
SUBMITTER: Manali ED
PROVIDER: S-EPMC6646961 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Publications
Bi-allelic missense <i>ABCA3</i> mutations in a patient with childhood ILD who reached adulthood.
Manali Effrosyni D ED Legendre Marie M Nathan Nadia N Kannengiesser Caroline C Coulomb-L'Hermine Aurore A Tsiligiannis Theofanis T Tomos Pericles P Griese Matthias M Borie Raphael R Clement Annick A Amselem Serge S Crestani Bruno B Papiris Spyros A SA
ERJ open research 20190722 3
<b>Children with <i>ABCA3</i> 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.</b> http://bit.ly/2LzMNOE. ...[more]
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