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A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population

The decreasing cost of whole-genome and whole-exome sequencing has resulted in a renaissance for identifying Mendelian disease mutations, and for the first time it is possible to survey the distribution and characteristics of these mutations in large population samples. We conducted carrier screenin...

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Autori principali: Chong, Jessica X., Ouwenga, Rebecca, Anderson, Rebecca L., Waggoner, Darrel J., Ober, Carole
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3484657/
https://ncbi.nlm.nih.gov/pubmed/22981120
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.08.007
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