Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis-Reference-Cited by-同舟云学术

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Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis

Published:2011-10-20 Issue:12 Volume:56 Page:834-839
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Douglas Ganka V,Wiszniewska Joanna,Lipson Mark H,Witt David R,McDowell Taryn,Sifry-Platt Mara,Hirano Michio,Craigen William J,Wong Lee-Jun C

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg2011112.pdf

Reference28 articles.

1. Spinazzola, A., Invernizzi, F., Carrara, F., Lamantea, E., Donati, A., Dirocco, M. et al. Clinical and molecular features of mitochondrial DNA depletion syndromes. J. Inherit. Metab. Dis. 32, 143–158 (2009).

2. Spinazzola, A. & Zeviani, M. Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk. J. Intern. Med. 265, 174–192 (2009).

3. Milone, M. & Massie, R. Polymerase gamma 1 mutations: clinical correlations. Neurologist 16, 84–91 (2010).

4. Deschauer, M., Tennant, S., Rokicka, A., He, L., Kraya, T., Turnbull, D. M. et al. MELAS associated with mutations in the POLG1 gene. Neurology 68, 1741–1742 (2007).

5. Nishino, I., Spinazzola, A. & Hirano, M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283, 689–692 (1999).

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