共 122 条
[1]
May A(1998)The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia Haematologica 83 56-70
[2]
Bishop DF(2014)Sideroblastic anemia: diagnosis and management Hematol Oncol Clin North Am 28 653-670
[3]
Bottomley SS(2006)A novel mutation, Ile289Thr, in the ALAS2 gene in a family with pyridoxine responsive sideroblastic anaemia J Clin Pathol 59 1002-212
[4]
Fleming MD(1992)Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations Genomics 13 211-111
[5]
Percy MJ(1990)Erythroid 5-aminolevulinate synthase is located on the X chromosome Am J Hum Genet 46 107-3177
[6]
Cuthbert RJG(2020)Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release Nat Commun 11 2813-114
[7]
May A(2005)Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans Embo J 24 3166-282
[8]
McMullin MF(1999)A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia Am J Hematol 62 112-69
[9]
Cotter PD(2016)Sideroblastic anemia: functional study of two novel missense mutations in ALAS2 Mol Genet Genomic Med 4 273-4624
[10]
Willard HF(2011)Frequent pathway mutations of splicing machinery in myelodysplasia Nature 478 64-1957