A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

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Title: A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
Authors: Torraco, A.1, Bianchi, M.1, Verrigni, D.1, Gelmetti, V.2, Riley, L.3,4, Niceta, M.5, Martinelli, D.6, Montanari, A.7, Guo, Y.3, Rizza, T.1, Diodato, D.1, Di Nottia, M.1, Lucarelli, B.8, Sorrentino, F.9, Piemonte, F.1, Francisci, S.10, Tartaglia, M.5, Valente, E.M.11, Dionisi‐Vici, C.6, Christodoulou, J.3,4,12
Source: Clinical Genetics. Mar2017, Vol. 91 Issue 3, p441-447. 8p. 2 Graphs.
Database: Academic Search Ultimate
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ISSN:00099163
DOI:10.1111/cge.12790