(Q34130246)

31 July 2017

title

A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia (English)

1 reference

31 July 2017

Matthew T Hurford

1

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31 July 2017

Cristina Marshall-Taylor

2

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31 July 2017

Sandy L Vicki

3

1 reference

31 July 2017

Jackie Z Zhou

4

1 reference

31 July 2017

Lawrence M Silverman

5

1 reference

31 July 2017

William N Rezuke

6

1 reference

31 July 2017

Arnold Altman

7

1 reference

31 July 2017

Gregory J Tsongalis

8

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31 July 2017

publication date

1 July 2002

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31 July 2017

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31 July 2017

volume

321

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31 July 2017

issue

1-2

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31 July 2017

page(s)

49-53

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Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2802%2900095-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2802%2900095-5

Heme biosynthesis in mammalian systems: evidence of a Schiff base linkage between the pyridoxal 5'-phosphate cofactor and a lysine residue in 5-aminolevulinate synthase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2802%2900095-5

Expression of delta-aminolevulinate synthase in avian cells: separate genes encode erythroid-specific and nonspecific isozymes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2802%2900095-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2802%2900095-5

Hereditary sideroblastic anaemia due to a mutation in exon 10 of the erythroid 5-aminolaevulinate synthase gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2802%2900095-5

A novel mutation of the erythroid-specific delta-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2802%2900095-5

10.1016/S0009-8981(02)00095-5

7 January 2021

Identifiers

DOI

1 reference

release_e7faxokf5zfblpdjswfr5xdfmm

31 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/e7faxokf5zfblpdjswfr5xdfmm

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference