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pro vyhledávání: '"Sandrine Osmond"'
Autor:
Isabelle Valnot, Sandrine Osmond, Nadine Gigarel, Blandine Mehaye, Jeanne Amiel, Valerie Cormier‐Daire, Arnold Munnich, Jean‐Paul Bonnefont, Pierre Rustin, Agnes Rotig
Publikováno v:
The American Journal of Human Genetics. 67:1104-1109
Autor:
Jean-Paul Bonnefont, Nadine Gigarel, Arnold Munnich, Jeanne Amiel, Agnès Rötig, Isabelle Valnot, Sandrine Osmond, Pierre Rustin, Blandine Mehaye, Valérie Cormier-Daire
Publikováno v:
The American Journal of Human Genetics. 67(5):1104-1109
Cytochrome c oxidase (COX) catalyzes both electron transfer from cytochrome c to molecular oxygen and the concomitant vectorial proton pumping across the inner mitochondrial membrane. Studying a large family with multiple cases of neonatal ketoacidot