JCI - Citations to Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.

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Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.

P D Cotter, … , L Wong, D F Bishop

P D Cotter, … , L Wong, D F Bishop

Published October 1, 1995
Citation Information: J Clin Invest. 1995;96(4):2090-2096. https://doi.org/10.1172/JCI118258.

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Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity K Furuyama, H Harigae, T Heller, BC Hamel, EI Minder, T Shimizu, T Kuribara, N Blijlevens, S Shibahara, S Sassa	European Journal of Haematology	2006
X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns M Aivado, N Gattermann, A Rong, AA Giagounidis, WC Prall, A Czibere, B Hildebrandt, R Haas, SS Bottomley	Blood Cells, Molecules, and Diseases	2006
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Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia K Furuyama, S Sassa	Journal of Clinical Investigation	2000
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Pyridoxine Refractory X-Linked Sideroblastic Anemia Caused by a Point Mutation in the Erythroid 5-Aminolevulinate Synthase Gene K Furuyama, H Fujita, T Nagai, K Yomogida, H Munakata, M Kondo, A Kimura, A Kuramoto, N Hayashi, M Yamamoto	Blood	1997
Heteroplasmic Point Mutations of Mitochondrial DNA Affecting Subunit I of Cytochrome c Oxidase in Two Patients With Acquired Idiopathic Sideroblastic Anemia N Gattermann, S Retzlaff, YL Wang, G Hofhaus, J Heinisch, C Aul, W Schneider	Blood	1997
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