(Q67737736)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1733834%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1733834%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

1 reference

congenital erythropoietic porphyria

1 reference

inferred from title

Erythropoietic porphyria

1 reference

1 reference

11 November 2022

author name string

S. Boulechfar

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1733834

11 November 2022

V. Da Silva

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1733834

11 November 2022

J. C. Deybach

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1733834

11 November 2022

Y. Nordmann

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1733834

11 November 2022

B. Grandchamp

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1733834

11 November 2022

H. de Verneuil

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1733834

11 November 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1733834

11 November 2022

publication date

1 January 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1733834%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

17 September 2019

http://link.springer.com/content/pdf/10.1007/BF00197267.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00197267/fulltext.html

11 November 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF00197267

11 November 2022

1 reference

11 November 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1733834%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

volume

88

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1733834%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1733834%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

page(s)

320-324

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1733834%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00197267

17 September 2019

exact match

0 references

cites work

Splicing of messenger RNA precursors

1 reference

12 December 2020

Purification and properties of uroporphyrinogen III synthase from human erythrocytes

1 reference

12 December 2020

Purification and properties of uroporphyrinogen III synthase (co-synthase) from an overproducing recombinant strain of Escherichia coli K-12

1 reference

12 December 2020

Adenosine deaminase messenger RNAs in lymphoblast cell lines derived from leukemic patients and patients with hereditary adenosine deaminase deficiency

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

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

1 reference

12 December 2020

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

12 December 2020

Tissue-specific splicing mutation in acute intermittent porphyria.

1 reference

12 December 2020

A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

1 reference

12 December 2020

Uroporphyrinogen 3 cosynthetase in human congenital erythropoietic porphyria

1 reference

12 December 2020

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

1 reference

12 December 2020