Cystic fibrosis genetics: from molecular understanding to clinical application View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-01

AUTHORS

Garry R. Cutting

ABSTRACT

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 presented here as an example. Recent progress in elucidating disease mechanism and causes of phenotypic variation, as well as in the development of treatments, demonstrates that genetics continues to play an important part in cystic fibrosis research 25 years after the discovery of the disease-causing gene. More... »

PAGES

45-56

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/nrg3849

DOI

http://dx.doi.org/10.1038/nrg3849

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1029517960

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25404111


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curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/nrg3849'

N-Triples is a line-based linked data format ideal for batch operations.

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