(Q46846863)

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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

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scholarly article

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Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16343269

Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity (English)

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16343269

10

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Shigeru Sassa

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25 December 2017

http://europepmc.org/abstract/MED/16343269

author name string

Kazumichi Furuyama

1

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Europe PubMed Central

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25 December 2017

http://europepmc.org/abstract/MED/16343269

Hideo Harigae

2

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Europe PubMed Central

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25 December 2017

http://europepmc.org/abstract/MED/16343269

Tom Heller

3

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25 December 2017

http://europepmc.org/abstract/MED/16343269

Ben C J Hamel

4

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25 December 2017

http://europepmc.org/abstract/MED/16343269

Elisabeth I Minder

5

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25 December 2017

http://europepmc.org/abstract/MED/16343269

Toru Shimizu

6

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25 December 2017

http://europepmc.org/abstract/MED/16343269

Tadao Kuribara

7

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25 December 2017

http://europepmc.org/abstract/MED/16343269

Nicole Blijlevens

8

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25 December 2017

http://europepmc.org/abstract/MED/16343269

Shigeki Shibahara

9

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25 December 2017

http://europepmc.org/abstract/MED/16343269

publication date

1 January 2006

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25 December 2017

http://europepmc.org/abstract/MED/16343269

European Journal of Haematology

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25 December 2017

http://europepmc.org/abstract/MED/16343269

76

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25 December 2017

http://europepmc.org/abstract/MED/16343269

1

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25 December 2017

http://europepmc.org/abstract/MED/16343269

33-41

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PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16343269

Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0609.2005.00541.X

21 January 2018

Assignment1 of human putative tumor suppressor genes ST13 (alias SNC6) and ST14 (alias SNC19) to human chromosome bands 22q13 and 11q24-->q25 by in situ hybridization

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0609.2005.00541.X

21 January 2018

A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0609.2005.00541.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0609.2005.00541.X

21 January 2018

Late-onset X-linked sideroblastic anemia following hemodialysis

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0609.2005.00541.X

21 January 2018

How frequent are diabetes-related amputations of the lower limbs in Germany? An analysis on the basis of routine data

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0609.2005.00541.X

21 January 2018

Sideroblastic anaemia. A review of seven paediatric cases

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0609.2005.00541.X

21 January 2018

Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0609.2005.00541.X

21 January 2018

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0609.2005.00541.X

21 January 2018

The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0609.2005.00541.X

21 January 2018

5-Aminolevulinic acid synthase: mechanism, mutations and medicine

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0609.2005.00541.X

21 January 2018

Anatomy of hot spots in protein interfaces

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0609.2005.00541.X

21 January 2018

Identifiers

10.1111/J.1600-0609.2005.00541.X

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16343269

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/16343269

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