FBXL4 is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukodystrophy

التفاصيل البيبلوغرافية
العنوان: FBXL4 is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukodystrophy
المؤلفون: Holger Prokisch, Thomas Wieland, Lee-Jun C. Wong, Emtethal Al-Jishi, Fowzan S. Alkuraya, Daniele Ghezzi, Xiaowu Gai, Claire A. Sheldon, Richard J. Rodenburg, Caroline Biagosch, Hanah Shamseldin, Tim M. Strom, Mark A. Johnson, Aurelio Reyes, Erzsebet Polyak, Satish Srinivasan, Sara Vidoni, Julian Ostrovsky, Costanza Lamperti, Marni J. Falk, Tobias B. Haack, Matteo Gorza, Peter Freisinger, Massimo Zeviani, Neal Sondheimer, Mustafa A. Salih, Jan A.M. Smeitink, Eric A. Pierce, Francesca Furlan, Emily Place, Mark Consugar, Mai Tsukikawa
المصدر: Mitochondrion. 13:939-940
بيانات النشر: Elsevier BV, 2013.
سنة النشر: 2013
مصطلحات موضوعية: FBXL4, Genetics, Pathology, medicine.medical_specialty, business.industry, Leukodystrophy, Respiratory chain, Cell Biology, Mitochondrion, medicine.disease, Multisystem disease, medicine, Molecular Medicine, business, Molecular Biology, Cortical atrophy
تدمد: 1567-7249
DOI: 10.1016/j.mito.2013.07.104
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1951c4caade03c2c218650408f7dfb15
https://doi.org/10.1016/j.mito.2013.07.104
Rights: CLOSED
رقم الانضمام: edsair.doi...........1951c4caade03c2c218650408f7dfb15
قاعدة البيانات: OpenAIRE
الوصف
تدمد:15677249
DOI:10.1016/j.mito.2013.07.104