Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Muhamad Kumbar"'
Autor:
Arcangela Iuso, Nicola A. Grzeschik, Holger Prokisch, Iris Barshack, Muhamad Kumbar, Bart Kanon, Thomas Schwarzmayr, Gal Dubnov-Raz, Dorothea Haas, Riccardo Berutti, Bader Alhaddad, Marit Wiersma, Zeev Perles, Ben Pode-Shakked, Georg F. Hoffmann, Mathias Grigat, Tal Tirosh, Caterina Terrile, Elisa Mastantuono, Tim M. Strom, Jürgen G. Okun, Marina Rubinshtein, Matthias C. Braunisch, Yair Anikster, Shachar Abudi, Camilla Avivi, Ana C. Messias, Amir Vardi, Brundel Bianca Johanna Josephina Maria, Ody C. M. Sibon, Eran Eyal, Dina Marek-Yagel, Tobias B. Haack, Yishay Salem, Thomas Meitinger, A Volkov, Ortal Barel, Hans Joachim Schüller
Publikováno v:
American Journal of Human Genetics, 102(6), 1018-1030. CELL PRESS
Am. J. Hum. Genet. 102, 1018-1030 (2018)
The American Journal of Human Genetics
Iuso, A, Wiersma, M, Schüller, H J, Pode-Shakked, B, Marek-Yagel, D, Grigat, M, Schwarzmayr, T, Berutti, R, Alhaddad, B, Kanon, B, Grzeschik, N A, Okun, J G, Perles, Z, Salem, Y, Barel, O, Vardi, A, Rubinshtein, M, Tirosh, T, Dubnov-Raz, G, Messias, A C, Terrile, C, Barshack, I, Volkov, A, Avivi, C, Eyal, E, Mastantuono, E, Kumbar, M, Abudi, S, Braunisch, M, Strom, T M, Meitinger, T, Hoffmann, G F, Prokisch, H, Haack, T B, Brundel, B J J M, Haas, D, Sibon, O C M & Anikster, Y 2018, ' Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy ', American journal of human genetics, vol. 102, no. 6, pp. 1018-1030 . https://doi.org/10.1016/j.ajhg.2018.03.022
American journal of human genetics, 102(6), 1018-1030. Cell Press
Am. J. Hum. Genet. 102, 1018-1030 (2018)
The American Journal of Human Genetics
Iuso, A, Wiersma, M, Schüller, H J, Pode-Shakked, B, Marek-Yagel, D, Grigat, M, Schwarzmayr, T, Berutti, R, Alhaddad, B, Kanon, B, Grzeschik, N A, Okun, J G, Perles, Z, Salem, Y, Barel, O, Vardi, A, Rubinshtein, M, Tirosh, T, Dubnov-Raz, G, Messias, A C, Terrile, C, Barshack, I, Volkov, A, Avivi, C, Eyal, E, Mastantuono, E, Kumbar, M, Abudi, S, Braunisch, M, Strom, T M, Meitinger, T, Hoffmann, G F, Prokisch, H, Haack, T B, Brundel, B J J M, Haas, D, Sibon, O C M & Anikster, Y 2018, ' Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy ', American journal of human genetics, vol. 102, no. 6, pp. 1018-1030 . https://doi.org/10.1016/j.ajhg.2018.03.022
American journal of human genetics, 102(6), 1018-1030. Cell Press
Coenzyme A (CoA) is an essential metabolic cofactor used by around 4% of cellular enzymes. Its role is to carry and transfer acetyl and acyl groups to other molecules. Cells can synthesize CoA de novo from vitamin B5 (pantothenate) through five conse