A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

被引：0
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作者：
Henry Rivera
Elena Martín-Hernández
Aitor Delmiro
María Teresa García-Silva
Pilar Quijada-Fraile
Rafael Muley
Joaquín Arenas
Miguel A Martín
Francisco Martínez-Azorín
机构：
[1] Instituto de Investigación Hospital 12 de Octubre (i + 12),Laboratorio de Enfermedades Mitocondriales
[2] Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER),undefined
[3] U723,undefined
[4] Unidad Pediátrica de Enfermedades Raras,undefined
[5] Unidad Pediátrica de Nefrología,undefined
来源：
BMC Nephrology | / 14卷
关键词：
Mitochondrial DNA; Mitochondrial disease; HUPRA syndrome; Mitochondrial respiratory chain;
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