(Q51458103)

5 April 2018

title

A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia. (English)

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5 April 2018

author name string

Hyoung Soo Choi

1

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5 April 2018

Hye Ran Yang

2

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Sang Hoon Song

3

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5 April 2018

Ja-Young Seo

4

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Ki-O Lee

5

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Hee-Jin Kim

6

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5 April 2018

publication date

25 May 2011

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5 April 2018

published in

Pediatric Blood & Cancer

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volume

58

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issue

4

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page(s)

640-642

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

cites work

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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

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Iron-refractory iron deficiency anemia

21 January 2018

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

21 January 2018

1 reference

Forging a field: the golden age of iron biology

21 January 2018

1 reference

Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization

21 January 2018

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The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin

21 January 2018

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The serine protease TMPRSS6 is required to sense iron deficiency

21 January 2018

1 reference

Immunoassay for human serum hepcidin

21 January 2018

1 reference

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

Prediction of deleterious human alleles

21 January 2018

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Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload

21 January 2018

1 reference

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

21 January 2018

1 reference

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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/PBC.23190

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5 April 2018

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5 April 2018