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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Research
Acesso em linha: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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