Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies-Reference-Cited by-同舟云学术

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

Published:2011-12-01 Issue:1 Volume:57 Page:70-72
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Pagnamenta Alistair T,Lise Stefano,Harrison Victoria,Stewart Helen,Jayawant Sandeep,Quaghebeur Gerardine,Deng Alexander T,Murphy Valerie Elizabeth,Akha Elham Sadighi,Rimmer Andy,Mathieson Iain,Knight Samantha JL,Kini Usha,Taylor Jenny C,Keays David A

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg2011128.pdf

Reference8 articles.

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3. Patterson, K. I., Brummer, T., O’Brien, P. M. & Daly, R. J. Dual-specificity phosphatases: critical regulators with diverse cellular targets. Biochem. J. 418, 475–489 (2009).

4. Saillour, Y., Carion, N., Quelin, C., Leger, P. L., Boddaert, N., Elie, C. et al. LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. Arch. Neurol. 66, 1007–1015 (2009).

5. Tanaka, T., Serneo, F. F., Higgins, C., Gambello, M. J., Wynshaw-Boris, A. & Gleeson, J. G. Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. J. Cell Biol. 165, 709–721 (2004).

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