Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism

‘Apparent non-penetrance' occurs in several genetic disorders, including tuberous sclerosis complex and neurofibromatosis type 1: clinically unaffected parents may have multiple affected offspring. Germ line or somatic mosaicism in one of the parents of the index patient is the probable cause a...

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Main Authors: van Veghel-Plandsoen, Monique M, Wouters, Cokkie H, Kromosoeto, Joan N R, den Ridder-Klünnen, Mariska C, Halley, Dicky J J, van den Ouweland, Ans M W
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2011
主題:
Short Report
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3179360/
https://ncbi.nlm.nih.gov/pubmed/21487440
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.60
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