(Q68613527)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2246852%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

title

Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2246852%20AND%20SRC:MED&resulttype=core&format=json

acute intermittent porphyria

25 September 2019

main subject

1 reference

1 reference

C Picat

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2246852%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

M H Delfau

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2246852%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

F W de Rooij

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2246852%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

G J Beukeveld

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2246852%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

B G Wolthers

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2246852%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

S K Wadman

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2246852%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

Y Nordmann

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2246852%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

B Grandchamp

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2246852%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

publication date

1 January 1990

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2246852%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

25 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2246852%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2246852%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2246852%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

page(s)

684-686

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2246852%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf01799567

25 September 2019

exact match

0 references

cites work

A retrospective study of a patient with homozygous form of acute intermittent porphyria

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2246852

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

PubMed

https://pubmed.ncbi.nlm.nih.gov/2246852

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2246852

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/BF01799567

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2246852%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

1 reference