Whole exome sequencing reveals mutations in nars2 and pars2, encoding the mitochondrial asparaginyl-trna synthetase and prolyl-trna synthetase, in patients with alpers syndrome

Molecular Genetics and Genomic Medicine

Volumn 3, Issue 1, 2015, Pages 59-68.

  Sofou, Kalliopi ^a   Kollberg, Gittan ^b   Holmström, Maria ^b   Dávila, Marcela ^c   Darin, Niklas ^a   Gustafsson, Claes M ^c   Holme, Elisabeth ^b   Oldfors, Anders ^b   Tulinius, Mar ^a   Asin Cayuela, Jorge ^b  

^a QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^b SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^c UNIVERSITY OF GOTHENBURG   (Sweden)

Author keywords

Alpers syndrome; NARS2; PARS2; Whole exome sequencing

Indexed keywords

EID: 84923580226     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.115     Document Type: Article

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