(Q33832705)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2563167%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

title

Tissue-specific splicing mutation in acute intermittent porphyria (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2563167%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

7

1 reference

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1 October 2019

author name string

B Grandchamp

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2563167%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

C Picat

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2563167%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

V Mignotte

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2563167%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

J H Wilson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2563167%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

K Te Velde

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2563167%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

L Sandkuyl

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2563167%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

M Goossens

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2563167%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

Y Nordmann

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2563167%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

language of work or name

English

0 references

publication date

1 January 1989

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2563167%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

1 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2563167%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

volume

86

1 reference

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1 October 2019

page(s)

661-664

1 reference

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1 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2563167%20AND%20SRC:MED&resulttype=core&format=json

Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria

1 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286533

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286533

A new pair of M13 vectors for selecting either DNA strand of double-digest restriction fragments

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286533

Assignment of first random restriction fragment length polymorphism (RFLP) locus ((D14S1) to a region of human chromosome 14.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286533

Decreased Red Cell Uroporphyrinogen I Synthetase Activity in Intermittent Acute Porphyria

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286533

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286533

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286533

Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286533

A PstI polymorphism for the human porphobilinogen deaminase gene (PBG).

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286533

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286533

DNA sequencing with chain-terminating inhibitors

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=286533

Increased erythrocyte uroporphyrinogen-l-synthetase, delta-aminolevulinic acid dehydratase and protoporphyrin in hemolytic anemias

4 July 2018

1 reference

12 December 2020

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

12 December 2020

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

1 reference

12 December 2020

Acute intermittent porphyria in The Netherlands. Heterogeneity of the enzyme porphobilinogen deaminase

1 reference

12 December 2020

DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria

1 reference

12 December 2020

The occurrence and determination of delta-amino-levulinic acid and porphobilinogen in urine

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.86.2.661

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2563167%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2563167%20AND%20SRC:MED&resulttype=core&format=json

1 October 2019

1 reference