Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

Over 1200 recessive disease genes have been described in humans. The prevalence, allelic architecture, and per-genome load of pathogenic alleles in these genes remain to be fully elucidated, as does the contribution of DNA copy-number variants (CNVs) to carrier status and recessive disease. We mined...

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Detalhes bibliográficos
Main Authors: Boone, Philip M., Campbell, Ian M., Baggett, Brett C., Soens, Zachry T., Rao, Mitchell M., Hixson, Patricia M., Patel, Ankita, Bi, Weimin, Cheung, Sau Wai, Lalani, Seema R., Beaudet, Arthur L., Stankiewicz, Pawel, Shaw, Chad A., Lupski, James R.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2013
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3759716/
https://ncbi.nlm.nih.gov/pubmed/23685542
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.156075.113
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