Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity

BACKGROUND: Approximately 75% of clinically definite long QT syndrome (LQTS) cases are caused by mutations in the KCNQ1, KCNH2 and SCN5A genes. Of these mutations, a small proportion (3.2-9.2%) are predicted to affect splicing. These mutations present a particular challenge in ascribing pathogenicit...

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Vydáno v:J Clin Med Res
Hlavní autoři: Leong, Ivone U.S., Dryland, Philippa A., Prosser, Debra O., Lai, Stella W.-S., Graham, Mandy, Stiles, Martin, Crawford, Jackie, Skinner, Jonathan R., Love, Donald R.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elmer Press 2017
Témata:
Short Communication
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5505308/
https://ncbi.nlm.nih.gov/pubmed/28725320
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14740/jocmr2894w
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