Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene-Reference-Cited by-同舟云学术

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene

Published:2016-11 Issue:3 Volume:119 Page:214-222
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Bianciardi Laura,Imperatore Valentina,Fernandez-Vizarra Erika,Lopomo Angela,Falabella Micol,Furini Simone,Galluzzi Paolo,Grosso Salvatore,Zeviani Massimo,Renieri Alessandra,Mari Francesca,Frullanti Elisa

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference24 articles.

1. Subacute necrotizing encephalomyelopathy in an infant;Leigh;J. Neurol. Neurosurg. Psychiatry,1951

2. Mitochondrial DNA-associated Leigh syndrome and NARP;Thorburn,1993

3. Leigh and Leigh-like syndrome in children and adults;Finsterer;Pediatr. Neurol.,2008

4. Leigh syndrome: resolving the clinical and genetic heterogeneity paves the way for treatment options;Gerards;Mol. Genet. Metab.,2016

5. Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome;Dahl;Am. J. Hum. Genet.,1998

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