A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families

HARS2 encodes mitochondrial histidyl-tRNA synthetase (HARS2), which links histidine to its cognate tRNA in the mitochondrial matrix. Biallelic variants in HARS2 are associated with Perrault syndrome, a rare recessive condition characterized by sensorineural hearing loss in both sexes and primary ova...

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Detalles Bibliográficos
Autores principales: Demain, Leigh A. M., Gerkes, Erica. H., Smith, Richard J. H., Molina-Ramirez, Leslie P., O’Keefe, Raymond T., Newman, William G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7500128/
https://www.ncbi.nlm.nih.gov/pubmed/31827252
http://dx.doi.org/10.1038/s10038-019-0706-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7500128/
https://www.ncbi.nlm.nih.gov/pubmed/31827252
http://dx.doi.org/10.1038/s10038-019-0706-1

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