Application of Long-Read Nanopore Sequencing to the Search for Mutations in Hypertrophic Cardiomyopathy.
International Journal Of Molecular Sciences
Salakhov, Ramil R RR; Golubenko, Maria V MV; Valiakhmetov, Nail R NR; Pavlyukova, Elena N EN; Zarubin, Aleksei A AA; Babushkina, Nadezhda P NP; Kucher, Aksana N AN; Sleptcov, Aleksei A AA; Nazarenko, Maria S MS
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.
Plos One
Posch, Maximilian G MG; Waldmuller, Stephan S; Müller, Melanie M; Scheffold, Thomas T; Fournier, David D; Andrade-Navarro, Miguel A MA; De Geeter, Bernard B; Guillaumont, Sophie S; Dauphin, Claire C; Yousseff, Dany D; Schmitt, Katharina R KR; Perrot, Andreas A; Berger, Felix F; Hetzer, Roland R; Bouvagnet, Patrice P; Özcelik, Cemil C
Publication Date: 2011
Variant appearance in text: MYH7: 3973-30A>G; rs7159367
Fetal cardiac troponin isoforms rescue the increased Ca2+ sensitivity produced by a novel double deletion in cardiac troponin T linked to restrictive cardiomyopathy: a clinical, genetic, and functional approach.
The Journal Of Biological Chemistry
Pinto, Jose Renato JR; Yang, Shi Wei SW; Hitz, Marc-Phillip MP; Parvatiyar, Michelle S MS; Jones, Michelle A MA; Liang, Jingsheng J; Kokta, Victor V; Talajic, Mario M; Tremblay, Nicolas N; Jaeggi, Michelle M; Andelfinger, Gregor G; Potter, James D JD