Article
Cystic fibrosis genetics: from molecular understanding to clinical application.
Nature reviews. Genetics - 1 Jan 2015
Cutting Garry R
Abstract excerpt
The availability of the human genome sequence and tools for interrogating individual genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian conditions, which are caused by dysfunction of a single gene, offer powerful examples that illustrate how genetics can provide insights into disease. Cystic fibrosis, one of the more common lethal autosomal recessive Mendelian disorders, is...
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