Discovery of variants unmasked by hemizygous deletions

Array-based genome-wide segmental aneuploidy screening detects both de novo and inherited copy number variations (CNVs). In sporadic patients de novo CNVs are interpreted as potentially pathogenic. However, a deletion, transmitted from a healthy parent, may be pathogenic if it overlaps with a mutate...

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Detaylı Bibliyografya
Asıl Yazarlar: Hochstenbach, Ron, Poot, Martin, Nijman, Isaac J, Renkens, Ivo, Duran, Karen J, van'T Slot, Ruben, van Binsbergen, Ellen, van der Zwaag, Bert, Vogel, Maartje J, Terhal, Paulien A, Ploos van Amstel, Hans Kristian, Kloosterman, Wigard P, Cuppen, Edwin
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2012
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3376260/
https://ncbi.nlm.nih.gov/pubmed/22258528
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.263
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