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6. A novel mutation, Ile289Thr, in the ALAS2 gene in a family with pyridoxine responsive sideroblastic anaemia. Percy MJ; Cuthbert RJ; May A; McMullin MF J Clin Pathol; 2006 Sep; 59(9):1002. PubMed ID: 16935983 [No Abstract] [Full Text] [Related]
7. [A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia]. Zhu P; Bu D Zhonghua Xue Ye Xue Za Zhi; 2000 Sep; 21(9):478-81. PubMed ID: 11877024 [TBL] [Abstract][Full Text] [Related]
8. X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. Aivado M; Gattermann N; Rong A; Giagounidis AA; Prall WC; Czibere A; Hildebrandt B; Haas R; Bottomley SS Blood Cells Mol Dis; 2006; 37(1):40-5. PubMed ID: 16735131 [TBL] [Abstract][Full Text] [Related]
9. Onset of X-linked sideroblastic anemia in the fourth decade. Cortesão E; Vidan J; Pereira J; Gonçalves P; Ribeiro ML; Tamagnini G Haematologica; 2004 Oct; 89(10):1261-3. PubMed ID: 15477213 [TBL] [Abstract][Full Text] [Related]
10. Positional cloning of the zebrafish sauternes gene: a model for congenital sideroblastic anaemia. Brownlie A; Donovan A; Pratt SJ; Paw BH; Oates AC; Brugnara C; Witkowska HE; Sassa S; Zon LI Nat Genet; 1998 Nov; 20(3):244-50. PubMed ID: 9806542 [TBL] [Abstract][Full Text] [Related]
11. Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. Ducamp S; Kannengiesser C; Touati M; Garçon L; Guerci-Bresler A; Guichard JF; Vermylen C; Dochir J; Poirel HA; Fouyssac F; Mansuy L; Leroux G; Tertian G; Girot R; Heimpel H; Matthes T; Talbi N; Deybach JC; Beaumont C; Puy H; Grandchamp B Hum Mutat; 2011 Jun; 32(6):590-7. PubMed ID: 21309041 [TBL] [Abstract][Full Text] [Related]
12. New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. Kucerova J; Horvathova M; Mojzikova R; Belohlavkova P; Cermak J; Divoky V Acta Haematol; 2011; 125(4):193-7. PubMed ID: 21252495 [TBL] [Abstract][Full Text] [Related]
13. Recent advances in the understanding of inherited sideroblastic anaemia. Camaschella C Br J Haematol; 2008 Oct; 143(1):27-38. PubMed ID: 18637800 [TBL] [Abstract][Full Text] [Related]
14. [A case report of X-linked sideroblastic anemia with novel ALAS2 gene mutation]. Bao SJ; Zhu HM; Tong Y; Hao D; Ling Y; Yuan W; Zhou Y; Sun ZQ Zhonghua Xue Ye Xue Za Zhi; 2019 Aug; 40(8):684. PubMed ID: 31495138 [No Abstract] [Full Text] [Related]
15. Lethal ALAS2 mutation in males X-linked sideroblastic anaemia. Rose C; Callebaut I; Pascal L; Oudin C; Fournier M; Gouya L; Lambilliotte A; Kannengiesser C Br J Haematol; 2017 Aug; 178(4):648-651. PubMed ID: 27292130 [No Abstract] [Full Text] [Related]
16. Novel mutations in the ALAS2 gene from patients with X-linked sideroblastic anemia. Li J; Chen L; Lin Y; Ru K Int J Lab Hematol; 2020 Aug; 42(4):e160-e163. PubMed ID: 32297424 [No Abstract] [Full Text] [Related]
17. [Progress of study on sideroblastic anemia and its possible gene therapy--review]. Wang YQ; Zhu P Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2005 Jun; 13(3):524-8. PubMed ID: 15972158 [TBL] [Abstract][Full Text] [Related]
18. Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity. Furuyama K; Harigae H; Heller T; Hamel BC; Minder EI; Shimizu T; Kuribara T; Blijlevens N; Shibahara S; Sassa S Eur J Haematol; 2006 Jan; 76(1):33-41. PubMed ID: 16343269 [TBL] [Abstract][Full Text] [Related]
19. A Novel g.55040074delT in ALAS2 Gene Resulting in a Monomeric Protein and Severe Sideroblastic Anemia Phenotype. Bhatia P; Singh A; Hedge A J Pediatr Hematol Oncol; 2017 Aug; 39(6):463-465. PubMed ID: 28731922 [TBL] [Abstract][Full Text] [Related]
20. Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma. Barton JC; Lee PL Blood Cells Mol Dis; 2006; 36(3):342-6. PubMed ID: 16540354 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]