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Article

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

American journal of human genetics - 7 May 2015

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

Abstract excerpt

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 Réunion and the molecular basis of which is unresolved. Mutations were found in 26 individuals from Réunion and...

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Identifiers

PMID: 25913036
DOI: 10.1016/j.ajhg.2015.03.010
PMCID: PMC4570277

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