(Q71131031)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8655129%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8655129%20AND%20SRC:MED&resulttype=core&format=json

congenital erythropoietic porphyria

16 October 2019

main subject

1 reference

inferred from title

Erythropoietic porphyria

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8655129%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Shun'ichi Yamashita

5

1 reference

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16 October 2019

Cecile Ged

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8655129%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

author name string

K Tanigawa

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8655129%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

N Takamura

3

1 reference

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16 October 2019

H Namba

4

1 reference

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16 October 2019

H de Verneuil

6

1 reference

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16 October 2019

publication date

1 May 1996

1 reference

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16 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8655129%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

volume

97

1 reference

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16 October 2019

issue

5

1 reference

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16 October 2019

page(s)

557-560

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8655129%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf02281859

16 October 2019

exact match

0 references

cites work

Separation of porphyrin isomers by high-performance liquid chromatography

1 reference

12 December 2020

Identification of two new mutations in congenital erythropoietic porphyria.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Purification and properties of uroporphyrinogen III synthase from human erythrocytes

1 reference

12 December 2020

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

1 reference

12 December 2020

The rapid determination of erythrocyte porphyrins using reversed-phase high performance liquid chromatography

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Plasmasorbent therapy with activated charcoal column for congenital erythropoietic porphyria

1 reference

12 December 2020

Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).

1 reference

12 December 2020

Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease)

1 reference

12 December 2020

Coproporphyrinogen III oxidase assay

1 reference

12 December 2020

Uroporphyrinogen 3 cosynthetase in human congenital erythropoietic porphyria

1 reference

12 December 2020

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Coexistent hereditary coproporphyria and congenital erythropoietic porphyria (Günther disease)

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02281859

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8655129%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference