Zobrazeno 1 - 3
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pro vyhledávání: '"Blandine Mehaye"'
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
Autor:
Alexander Tzagoloff, Agnès Rötig, Antonio Barrientos, Jan-Willem Taanman, Blandine Mehaye, Jürgen Christoph Von Kleist-Retzow, Pierre Rustin, Marina Gorbatyuk, Isabelle Valnot, Arnold Munnich
Publikováno v:
Scopus-Elsevier
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Cytochrome c oxidase (COX) defects are found in a clinically and genetically heterogeneous group of mitochondrial disorders. To date, mutations in only two nuclear genes causing COX deficiency have been described. We report here a genetic linkage stu