(Q54564092)

1 June 2018

title

Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family. (English)

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1 June 2018

congenital erythropoietic porphyria

main subject

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based on heuristic

inferred from title

Erythropoietic porphyria

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7

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1 June 2018

author name string

Takamura N

1

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1 June 2018

Hombrados I

2

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1 June 2018

Tanigawa K

3

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1 June 2018

Namba H

4

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1 June 2018

Nagayama Y

5

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1 June 2018

de Verneuil H

6

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1 June 2018

publication date

1 June 1997

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1 June 2018

American Journal of Medical Genetics Part A

published in

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1 June 2018

volume

70

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1 June 2018

issue

3

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1 June 2018

page(s)

299-302

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1 June 2018

Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970613%2970%3A3%3C299%3A%3AAID-AJMG16%3E3.0.CO%3B2-G

Uroporphyrinogen 3 cosynthetase in human congenital erythropoietic porphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970613%2970%3A3%3C299%3A%3AAID-AJMG16%3E3.0.CO%3B2-G

Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970613%2970%3A3%3C299%3A%3AAID-AJMG16%3E3.0.CO%3B2-G

Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970613%2970%3A3%3C299%3A%3AAID-AJMG16%3E3.0.CO%3B2-G

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970613%2970%3A3%3C299%3A%3AAID-AJMG16%3E3.0.CO%3B2-G

Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970613%2970%3A3%3C299%3A%3AAID-AJMG16%3E3.0.CO%3B2-G

Bone-marrow transplantation for congenital erythropoietic porphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970613%2970%3A3%3C299%3A%3AAID-AJMG16%3E3.0.CO%3B2-G

A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970613%2970%3A3%3C299%3A%3AAID-AJMG16%3E3.0.CO%3B2-G

10.1002/(SICI)1096-8628(19970613)70:3<299::AID-AJMG16>3.0.CO;2-G

21 January 2018

Identifiers

DOI

1 reference

1 June 2018

1 reference

1 June 2018