Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

Methionyl-tRNA synthetase (MARS) catalyzes the ligation of methionine to tRNA and is critical for protein biosynthesis. We identified biallelic missense mutations in MARS in a specific form of pediatric pulmonary alveolar proteinosis (PAP), a severe lung disorder that is prevalent on the island of R...

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Udgivet i:Am J Hum Genet
Main Authors: Hadchouel, Alice, Wieland, Thomas, Griese, Matthias, Baruffini, Enrico, Lorenz-Depiereux, Bettina, Enaud, Laurent, Graf, Elisabeth, Dubus, Jean Christophe, Halioui-Louhaichi, Sonia, Coulomb, Aurore, Delacourt, Christophe, Eckstein, Gertrud, Zarbock, Ralf, Schwarzmayr, Thomas, Cartault, François, Meitinger, Thomas, Lodi, Tiziana, de Blic, Jacques, Strom, Tim M.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2015
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4570277/
https://ncbi.nlm.nih.gov/pubmed/25913036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.03.010
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