Comparative-high resolution melting: a novel method of simultaneous screening for small mutations and copy number variations-Reference-Cited by-同舟云学术

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Comparative-high resolution melting: a novel method of simultaneous screening for small mutations and copy number variations

Published:2013-11-15 Issue:5 Volume:133 Page:535-545
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Borun Pawel,Kubaszewski Lukasz,Banasiewicz Tomasz,Walkowiak Jaroslaw,Skrzypczak-Zielinska Marzena,Kaczmarek-Rys Marta,Plawski Andrzej

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s00439-013-1393-1/fulltext.html

Reference25 articles.

1. Aretz S, Stienen D, Uhlhaas S, Pagenstecher C, Mangold E, Caspari R, Propping P, Friedl W (2005) Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis. J Med Genet 42(2):185–192

2. Arlt MF, Wilson TE, Glover TW (2012) Replication stress and mechanisms of CNV formation. Curr Opin Genet Dev 22(3):204–210

3. Bakker E, Van Broeckhoven C, Bonten EJ, van de Vooren MJ, Veenema H, Van Hul W, Van Ommen GJ, Vandenberghe A, Pearson PL (1987) Germline mosaicism and Duchenne muscular dystrophy mutations. Nature 329(6139):554–556

4. Beckmann JS, Sharp AJ, Antonarakis SE (2008) CNVs and genetic medicine (excitement and consequences of a rediscovery). Cytogenet Genome Res 123(1–4):7–16

5. D’Haene B, Vandesompele J, Hellemans J (2010) Accurate and objective copy number profiling using real-time quantitative PCR. Methods 50(4):262–270

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