التفاصيل البيبلوغرافية
العنوان:
Leigh syndrome caused by mutations in
المؤلفون:
Hannah, Hayhurst , Irenaeus F M, de Coo , Dorota, Piekutowska-Abramczuk , Charlotte L, Alston , Sunil, Sharma , Kyle, Thompson , Rocio, Rius , Langping, He , Sila, Hopton , Rafal, Ploski , Elzbieta, Ciara , Nicole J, Lake , Alison G, Compton , Martin B, Delatycki , Aad, Verrips , Penelope E, Bonnen , Simon A, Jones , Andrew A, Morris , David, Shakespeare , John, Christodoulou , Dorota, Wesol-Kucharska , Dariusz, Rokicki , Hubert J M, Smeets , Ewa, Pronicka , David R, Thorburn , Grainne S, Gorman , Robert, McFarland , Robert W, Taylor , Yi Shiau, Ng
المصدر:
Annals of Clinical and Translational Neurology
سنة النشر:
2018
مصطلحات موضوعية:
Hydroxymethyl and Formyl Transferases , Male , Mitochondrial Diseases , Adolescent , Biopsy , Infant, Newborn , Infant , Fibroblasts , Prognosis , Mitochondria , Cohort Studies , Mitochondrial Proteins , Child, Preschool , Genomic Structural Variation , Mutation , Humans , Female , Leigh Disease , Erratum , Child , Retrospective Studies
الوصف:
Mitochondrial methionyl-tRNA formyltransferase (MTFMT) is required for the initiation of translation and elongation of mitochondrial protein synthesisRetrospective cohort study combining new cases and previously published cases.Thirty-eight patients with pathogenic variants inPatients that harbour pathogenic variants in
تدمد:
2328-9503
الوصول الحر:
https://explore.openaire.eu/search/publication?articleId=pmid________::2cc9b423544ca3b4a32ed517a409765aTest https://pubmed.ncbi.nlm.nih.gov/31020008Test
حقوق:
OPEN
رقم الانضمام:
edsair.pmid..........2cc9b423544ca3b4a32ed517a409765a
قاعدة البيانات:
OpenAIRE
