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1998 1
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PubMed (OMIM) for id: 10142

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AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.
de Villiers CP, van der Merwe L, Crotti L, Goosen A, George AL Jr, Schwartz PJ, Brink PA, Moolman-Smook JC, Corfield VA. de Villiers CP, et al. Circ Cardiovasc Genet. 2014 Oct;7(5):599-606. doi: 10.1161/CIRCGENETICS.113.000580. Epub 2014 Aug 2. Circ Cardiovasc Genet. 2014. PMID: 25087618 Free PMC article.
Mutation of an A-kinase-anchoring protein causes long-QT syndrome.
Chen L, Marquardt ML, Tester DJ, Sampson KJ, Ackerman MJ, Kass RS. Chen L, et al. Proc Natl Acad Sci U S A. 2007 Dec 26;104(52):20990-5. doi: 10.1073/pnas.0710527105. Epub 2007 Dec 19. Proc Natl Acad Sci U S A. 2007. PMID: 18093912 Free PMC article.
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
Jongbloed RJ, Wilde AA, Geelen JL, Doevendans P, Schaap C, Van Langen I, van Tintelen JP, Cobben JM, Beaufort-Krol GC, Geraedts JP, Smeets HJ. Jongbloed RJ, et al. Hum Mutat. 1999;13(4):301-10. doi: 10.1002/(SICI)1098-1004(1999)13:4<301::AID-HUMU7>3.0.CO;2-V. Hum Mutat. 1999. PMID: 10220144
11 results