MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset
MYH7 p.(Arg1712Gln) 是一种致病性创始变异,可导致肥厚型心肌病,但总体发病时间相对较晚。
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doi:10.1007/s12471-023-01798-9
Marsili, Luisa; van Lint, Freyja H M; Russo, Francesco; van Spaendonck-Zwarts, Karin Y; Ader, Flavie; Bichon, Marie-Line; Faivre, Laurence; Houweling, Arjan C; Isidor, Bertrand; Lekanne Deprez, Ronald H; Cox, Moniek G P J; Wilde, Arthur A M; Mazel, Benoit; Mercier, Sandra; Dooijes, Dennis; Millat, Gilles; Nguyen, Karine; Post, Jan G; Richard, Pascale; van de Beek, Irma; Vermeer, Alexa M C; Boven, Ludolf; Jongbloed, Jan D H; van Tintelen, J Peter