Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Vera De Nardo"'
Autor:
Luisa Iommarini, Michele Carbonelli, Alessandro Achilli, Maria Pala, Giovanni Rizzo, Luca Ferretti, Alessandra Maresca, Anna Ghelli, Caterina Tonon, Francesca Gandini, Valeria Carossa, Raffaele Lodi, Maria Lucia Valentino, Leonardo Caporali, Rocco Liguori, Piero Barboni, Andrea Martinuzzi, Anna Olivieri, Concetta Valentina Tropeano, Antonio Torroni, Michela Rugolo, Valerio Carelli, Chiara La Morgia, Vera De Nardo
Publikováno v:
Human Mutation. 35:954-958
A novel heteroplasmic mitochondrial DNA (mtDNA) microdeletion affecting the cytochrome b gene (MT-CYB) was identified in an Italian female patient with a multisystem disease characterized by sensorineural deafness, cataracts, retinal pigmentary dystr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19b311af46a4e9f97922ef8d89e90541
https://doi.org/10.1002/humu.22596
https://doi.org/10.1002/humu.22596
Autor:
Michela Rugolo, Vera De Nardo, Giuseppe Gasparre, Ivana Kurelac, Anna Maria Porcelli, Flemming Wibrand, Claudia Zanna, John Vissing, Andrea Martinuzzi, Anna Ghelli, Maria Antonietta Calvaruso, Alessandra Marchesini, Nur Selamoglu, Fevzi Daldal, Concetta Valentina Tropeano, Luisa Iommarini
Cytochrome b is the only mtDNA-encoded subunit of the mitochondrial complex III (CIII), the functional bottleneck of the respiratory chain. Previously, the human cytochrome b missense mutation m.15579A>G, which substitutes the Tyr 278 with Cys (p.278
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e289c7ab6ee8b2863c6d5dc087ab2bcc
http://hdl.handle.net/11585/133718
http://hdl.handle.net/11585/133718
Autor:
Carossa, Valeria, Ghelli, Anna, Tropeano, Concetta Valentina, Valentino, Maria Lucia, Iommarini, Luisa, Maresca, Alessandra, Caporali, Leonardo, La Morgia, Chiara, Liguori, Rocco, Barboni, Piero, Carbonelli, Michele, Rizzo, Giovanni, Tonon, Caterina, Lodi, Raffaele, Martinuzzi, Andrea, Nardo, Vera, Rugolo, Michela, Ferretti, Luca, Gandini, Francesca, Pala, Maria
Publikováno v:
Human Mutation; Aug2014, Vol. 35 Issue 8, p954-958, 5p
Publikováno v:
Human Mutation; Aug2014, Vol. 35 Issue 8, pi-iii, 3p