Mitochondrial oxidative phosphorylation disorders in children: Phenotypic, genotypic and biochemical correlations in 85 patients from South India-Reference-Cited by-同舟云学术

Mitochondrial oxidative phosphorylation disorders in children: Phenotypic, genotypic and biochemical correlations in 85 patients from South India

Published:2017-01 Issue: Volume:32 Page:42-49
ISSN:1567-7249
Container-title:Mitochondrion
language:en
Short-container-title:Mitochondrion

Author:

Sonam Kothari,Bindu Parayil Sankaran,Srinivas Bharath MM,Govindaraj Periyasamy,Gayathri Narayanappa,Arvinda Hanumanthapura R,Chiplunkar Shwetha,Nagappa Madhu,Sinha Sanjib,Khan Nahid Akhtar,Nunia Vandana,Paramasivam Arumugam,Thangaraj Kumarasamy,Taly Arun B

Funder

Department of Biotechnology, Govt. of India

Indian Council for Medical Research

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Molecular Medicine

Reference61 articles.

1. Multiple presentation of mitochondrial disorders;Andreea Nissenkorn;Arch. Dis. Child.,1999

2. Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations;Ashley;Hum. Mol. Genet.,2008

3. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders;Bannwarth;J. Med. Genet.,2013

4. Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ;Barel;Am. J. Hum. Genet.,2008

5. Respiratory-chain diseases related to complex III deficiency;Benit;Biochim. Biophys. Acta,2009

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