High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency-Reference-Cited by-同舟云学术

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High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency

Published:2012-05-17 Issue:7 Volume:57 Page:442-448
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Vondrackova Alzbeta,Vesela Katerina,Hansikova Hana,Zajicova Docekalova Dagmar,Rozsypalova Eva,Zeman Jiri,Tesarova Marketa

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg201249.pdf

Reference56 articles.

1. Fernández-Vizarra, E., Tiranti, V., Zeviani, M. Assembly of the oxidative phosphorylation system in humans: What we have learned by studying its defects. Biochim. Biophys. Acta 1793, 200–211 (2009).

2. Böhm, M., Pronicka, E., Karczmarewicz, E., Pronicki, M., Piekutowska-Abramczuk, D., Sykut-Cegielska, J. et al Retrospective, multicentric study of 180 children with cytochrome c oxidase deficiency. Pediatr. Res. 59, 21–26 (2006).

3. Coenen, M. J. H., van den Heuvel, L. P., Nijtmans, L. G. J., Morava, E., Marquardt, I., Girschick, H. J. et al SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency. Biochem. Biophys. Res. Commun. 265, 339–344 (1999).

4. Sue, C., Karadimas, C., Checcarelli, N., Tanji, K., Papadopoulou, L., Pallotti, F. et al Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Ann. Neurol. 47, 589–595 (2000).

5. Tarnopolsky, M. A., Bourgeois, J. M., Fu, M. H., Kataeva, G., Shah, J., Simon, D. K. et al Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. Am. J. Med. Genet. A 125A, 310–314 (2004).

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