المؤلفون: A. M. Lyons, A. Ardissone, A. Reyes, A. J. Robinson, I. Moroni, E. Fernandez Vizarra, M. Zeviani, D. Ghezzi

المساهمون: A.M. Lyon, A. Ardissone, A. Reye, A.J. Robinson, I. Moroni, D. Ghezzi, E. Fernandez Vizarra, M. Zeviani

مصطلحات موضوعية: COX assembly, molecular genetic, neurology, mitochondrial disease, mitochondrial respiratory chaixn, amino acid sequence, cytochrome-C oxidase deficiency, DNA mutational analysi, female, human, leukoencephalopathie, mitochondria, mitochondrial protein, sequence alignment, young adult, mutation, genetic, genetics (clinical), Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27683825; info:eu-repo/semantics/altIdentifier/wos/WOS:000391457200009; volume:53; issue:12; firstpage:846; lastpage:849; numberofpages:4; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/2434/523712Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85028270331

الإتاحة: https://doi.org/10.1136/jmedgenet-2016-104194Test
http://hdl.handle.net/2434/523712Test

المؤلفون: A. Legati, A. Reyes, C. Ceccatelli Berti, O. Stehling, S. Marchet, C. Lamperti, A. Ferrari, A. J. Robinson, U. Mühlenhoff, R. Lill, M. Zeviani, P. Goffrini, GHEZZI, DANIELE

المساهمون: A. Legati, A. Reye, C. Ceccatelli Berti, O. Stehling, S. Marchet, C. Lamperti, A. Ferrari, A.J. Robinson, U. Mühlenhoff, R. Lill, M. Zeviani, P. Goffrini, D. Ghezzi

مصطلحات موضوعية: De Novo Mutation, Fe-s Cluster, Iscu, mitochondrial myopathy, genetic, genetics (clinical), Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29079705; info:eu-repo/semantics/altIdentifier/wos/WOS:000416147100005; volume:54; issue:12; firstpage:815; lastpage:824; numberofpages:10; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/2434/552095Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85037048767

الإتاحة: https://doi.org/10.1136/jmedgenet-2017-104822Test
http://hdl.handle.net/2434/552095Test