Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.

Iuso, Arcangela; Wiersma, Marit; Schüller, Hans-Joachim; Pode-Shakked, Ben; Marek-Yagel, Dina; Grigat, Mathias; Schwarzmayr, Thomas; Berutti, Riccardo; Alhaddad, Bader; Kanon, Bart; Grzeschik, Nicola A; Okun, Jürgen G; Perles, Zeev; Salem, Yishay; Barel, Ortal; Vardi, Amir; Rubinshtein, Marina; Tirosh, Tal; Dubnov-Raz, Gal; Messias, Ana C; Terrile, Caterina; Barshack, Iris; Volkov, Alex; Avivi, Camilla; Eyal, Eran; Mastantuono, Elisa; Kumbar, Muhamad; Abudi, Shachar; Braunisch, Matthias; Strom, Tim M; Meitinger, Thomas; Hoffmann, Georg F; Prokisch, Holger; Haack, Tobias B; Brundel, Bianca J J M; Haas, Dorothea; Sibon, Ody C M; Anikster, Yair.
Am J Hum Genet; 102(6): 1018-1030, 2018 06 07.
Artigo em Inglês | MEDLINE | ID: mdl-29754768