Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature

Interstitial lung and liver disease (ILLD) is caused by biallelic mutations in the methionyl-tRNA synthetase (MARS) gene. To date, no genetic changes other than missense variants were reported in the literature. Here, we report a five-month old female infant with typical ILLD (failure to thrive, dev...

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Detalles Bibliográficos
Autores principales: Abuduxikuer, Kuerbanjiang, Feng, Jia-Yan, Lu, Yi, Xie, Xin-Bao, Chen, Lian, Wang, Jian-She
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158480/
https://www.ncbi.nlm.nih.gov/pubmed/30271085
http://dx.doi.org/10.3748/wjg.v24.i36.4208

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158480/
https://www.ncbi.nlm.nih.gov/pubmed/30271085
http://dx.doi.org/10.3748/wjg.v24.i36.4208

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