Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction-Reference-Cited by-同舟云学术

Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction

Published:2019-07 Issue: Volume:47 Page:309-317
ISSN:1567-7249
Container-title:Mitochondrion
language:en
Short-container-title:Mitochondrion

Author:

Nogueira Célia,Silva Lisbeth,Pereira Cristina,Vieira Luís,Leão Teles Elisa,Rodrigues Esmeralda,Campos Teresa,Janeiro Patrícia,Gaspar Ana^ORCID,Dupont Juliette,Bandeira Anabela,Martins Esmeralda,Magalhães Marina,Sequeira Sílvia,Vieira José Pedro,Santos Helena,Vilarinho Sílvia,Vilarinho Laura

Funder

FCT

National Institute Of Diabetes And Digestive And Kidney Diseases of the National Institutes of Health

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Molecular Medicine

Reference36 articles.

1. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Curr. Protoc. Hum. Genet.,2013

2. Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy;Bénit;Hum. Mutat.,2003

3. Mitochondria: impaired mitochondrial translation in human disease;Boczonadi;Int. J. Biochem. Cell Biol.,2014

4. Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism;Burke;Clin. Genet.,2018

5. MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins;Calvo;Nucleic Acids Res.,2016

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