Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

BACKGROUND: Whole-exome sequencing has identified the causes of several Mendelian diseases by analyzing multiple unrelated cases, but it is more challenging to resolve the cause of extremely rare and suspected Mendelian diseases from individual families. We identified a family quartet with two child...

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Main Authors: Wang, Kai, Kim, Cecilia, Bradfield, Jonathan, Guo, Yunfei, Toskala, Elina, Otieno, Frederick G, Hou, Cuiping, Thomas, Kelly, Cardinale, Christopher, Lyon, Gholson J, Golhar, Ryan, Hakonarson, Hakon
格式: Artigo
語言:Inglês
出版: BioMed Central 2013
主題:
Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3971341/
https://ncbi.nlm.nih.gov/pubmed/23889995
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/gm471
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