Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria (Q28360504)

inferred from title

Erythropoietic porphyria

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5

R J Desnick

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author name string

C Solis

1

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G I Aizencang

2

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K H Astrin

3

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D F Bishop

Journal of Clinical Investigation

4

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language of work or name

English

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publication date

March 2001

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published in

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volume

107

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issue

6

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page(s)

753-62

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Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation

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29 September 2017

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29 September 2017

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29 September 2017

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Late onset erythropoietic porphyria

29 September 2017

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Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene

29 September 2017

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Disruption of a binding site for hepatocyte nuclear factor 4 results in hemophilia B Leyden

29 September 2017

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Molecular genetics of congenital erythropoietic porphyria

29 September 2017

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Congenital erythropoietic porphyria (Günther's disease): enzymatic studies on two cases of late onset.

2 June 2018

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2 June 2018

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Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2----q26.3.

27 November 2018

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Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

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Alterations in protein-DNA interactions in the gamma-globin gene promoter in response to butyrate therapy

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Biochemical diagnosis of a fatal case of Günther's disease in a newborn with hydrops foetalis

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