Literature DB >> 16935983

A novel mutation, Ile289Thr, in the ALAS2 gene in a family with pyridoxine responsive sideroblastic anaemia.

M J Percy, R J G Cuthbert, A May, M F McMullin.   

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Year:  2006        PMID： 16935983      PMCID： PMC1860471          DOI： 10.1136/jcp.2005.030932

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN： 0021-9746            Impact factor:   3.411


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  3 in total

1.  5-Aminolevulinic acid synthase: mechanism, mutations and medicine.

Authors:  Peter M Shoolingin-Jordan; Sooad Al-Daihan; Dmitriy Alexeev; Robert L Baxter; Sylvia S Bottomley; I Donald Kahari; Ipsita Roy; Muhammad Sarwar; Lindsay Sawyer; Shu-Fen Wang
Journal:  Biochim Biophys Acta       Date:  2003-04-11

Review 2.  The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia.

Authors:  A May; D F Bishop
Journal:  Haematologica       Date:  1998-01       Impact factor: 9.941

3.  The crystal structure of 8-amino-7-oxononanoate synthase: a bacterial PLP-dependent, acyl-CoA-condensing enzyme.

Authors:  D Alexeev; M Alexeeva; R L Baxter; D J Campopiano; S P Webster; L Sawyer
Journal:  J Mol Biol       Date:  1998-11-27       Impact factor: 5.469
  3 in total
  1 in total

1.  A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man.

Authors:  Jinbo Huang; Meili Ge; Yingqi Shao; Min Wang; Peng Jin; Jiali Huo; Xingxin Li; Jing Zhang; Neng Nie; Yizhou Zheng
Journal:  BMC Med Genomics       Date:  2021-04-15       Impact factor: 3.063
  1 in total

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