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Items: 4

Select item 60187431.

Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice

Jesus Mates, Irene Mademont-Soler, Bernat del Olmo, Carles Ferrer-Costa, Monica Coll, Alexandra Pérez-Serra, Ferran Picó, Catarina Allegue, Anna Fernandez-Falgueras, Patricia Álvarez, Raquel Yotti, Maria Angeles Espinosa, Georgia Sarquella-Brugada, Sergi Cesar, Ester Carro, Josep Brugada, Elena Arbelo, Pablo Garcia-Pavia, Mar Borregan, Eduardo Tizzano, Amador López-Granados, Francisco Mazuelos, Aranzazu Díaz de Bustamante, Maria Teresa Darnaude, José Ignacio González-Hevia, Felícitas Díaz-Flores, Francisco Trujillo, Anna Iglesias, Francisco Fernandez-Aviles, Oscar Campuzano, Ramon Brugada

Eur J Hum Genet. 2018 Jul; 26(7): 1014–1025. Published online 2018 Mar 6. doi: 10.1038/s41431-018-0119-1

PMCID:: PMC6018743

Abstract Article PDF–1.3M

Select item 40213382.

Differential Modulations of KCNQ1 by Auxiliary Proteins KCNE1 and KCNE2

Pan Li, Haowen Liu, Chaohua Lai, Peibei Sun, Wenping Zeng, Fangming Wu, Longhua Zhang, Sheng Wang, Changlin Tian, Jiuping Ding

Sci Rep. 2014; 4: 4973. Published online 2014 May 15. doi: 10.1038/srep04973

PMCID:: PMC4021338

Abstract Article PDF–2.3M

Select item 37631173.

Single Nucleotide Deletion Mutation of KCNH2 Gene is Responsible for LQT Syndrome in a 3-Generation Korean Family

Jong Keun Park, Yong-Seog Oh, Jee-hyun Choi, Sungjoo Kim Yoon

J Korean Med Sci. 2013 Sep; 28(9): 1388–1393. Published online 2013 Aug 28. doi: 10.3346/jkms.2013.28.9.1388

PMCID:: PMC3763117

Abstract Article PDF–1.6M

Select item 33592444.

Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation

Morten S Olesen, Bo H Bentzen, Jonas B Nielsen, Annette B Steffensen, Jens-Peter David, Javad Jabbari, Henrik K Jensen, Stig Haunsø, Jesper H Svendsen, Nicole Schmitt

BMC Med Genet. 2012; 13: 24. Published online 2012 Apr 3. doi: 10.1186/1471-2350-13-24