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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
Assuntos:
Report
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados