(Q51454485)

5 April 2018

title

Novel missense mutation in the TMPRSS6 gene in a Japanese female with iron-refractory iron deficiency anemia. (English)

1 reference

5 April 2018

author name string

Tsutomu Sato

1

1 reference

5 April 2018

Satoshi Iyama

2

1 reference

5 April 2018

Kazuyuki Murase

3

1 reference

5 April 2018

Yusuke Kamihara

4

1 reference

5 April 2018

Kaoru Ono

5

1 reference

5 April 2018

Shohei Kikuchi

6

1 reference

5 April 2018

Kohichi Takada

7

1 reference

5 April 2018

Koji Miyanishi

8

1 reference

5 April 2018

Yasushi Sato

9

1 reference

5 April 2018

Rishu Takimoto

10

1 reference

5 April 2018

Masayoshi Kobune

11

1 reference

5 April 2018

Junji Kato

12

1 reference

5 April 2018

publication date

4 June 2011

1 reference

5 April 2018

International Journal of Hematology

published in

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5 April 2018

volume

94

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5 April 2018

issue

1

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5 April 2018

page(s)

101-103

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5 April 2018

https://scigraph.springernature.com/pub.10.1007/s12185-011-0881-0

exact match

0 references

cites work

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0881-0

A novel splice site mutation c.2278 (-1) G>C in the TMPRSS6 gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0881-0

Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0881-0

A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0881-0

Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0881-0

Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0881-0

Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0881-0

Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0881-0

A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0881-0

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-011-0881-0

Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21643693

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S12185-011-0881-0

1 reference

5 April 2018

PubMed ID

21643693

1 reference

5 April 2018