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Case Reports
. 2010 Oct 8;87(4):567-9; author reply 569-70.
doi: 10.1016/j.ajhg.2010.05.021.

Exome sequencing in Brown-Vialetto-van Laere syndrome

Janel O Johnson, J Raphael Gibbs, Lionel Van Maldergem, Henry Houlden, Andrew B Singleton
Case Reports

Exome sequencing in Brown-Vialetto-van Laere syndrome

Janel O Johnson et al. Am J Hum Genet. .
No abstract available

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Figures

Figure 1
Figure 1
C20orf54 Mutations in Patients with BVVL (A) Heterozygous c.211G>A (p.E71K) mutation carried by both affected children (2008-410, II:2 and 2008-411, II:1) and the patients' father (I:2) but not by the patients' mother (I:1). (B) Heterozygous c.639C>G (p.Y213X) mutation carried by both affected siblings and their mother (2008-410, II:2; 2008-411, II:1; and I:1) but not by the father (I:2). (C) Homozygous c.82C>A (p.P28T) mutation carried by patient 48111 (IV:1) from family DZ. (D) Pedigrees of families DZ and 2008/13, probands indicated by arrows.
See this image and copyright information in PMC

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References

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    1. Li H., Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25:1754–1760. - PMC - PubMed
    1. Li H., Handsaker B., Wysoker A., Fennell T., Ruan J., Homer N., Marth G., Abecasis G., Durbin R., 1000 Genome Project Data Processing Subgroup The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009;25:2078–2079. - PMC - PubMed
    1. McKenna A.H., Hanna M., Banks E., Sivachenko A., Cibulskis K., Kernytsky A., Garimella K., Altshuler D., Gabriel S., Daly M., Depristo M. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297–1303. - PMC - PubMed

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