(Q24678243)

English

Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease

scientific article published on August 1, 1991

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scholarly article

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Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease (English)

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1 reference

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inferred from title

acute intermittent porphyria

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based on heuristic

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Felix W M De Rooij

3

object named as

F. De Rooij

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1714233

6 November 2022

author name string

M. H. Delfau

1

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1714233

6 November 2022

C. Picat

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1714233

6 November 2022

G. Voortman

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1714233

6 November 2022

J. C. Deybach

5

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Europe PubMed Central

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6 November 2022

Y. Nordmann

6

1 reference

Europe PubMed Central

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6 November 2022

B. Grandchamp

7

1 reference

Europe PubMed Central

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6 November 2022

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publication date

August 1991

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full work available at URL

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1714233/pdf/?tool=EBI

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1714233

6 November 2022

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1714233/?tool=EBI

online access status

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1714233

6 November 2022

https://europepmc.org/articles/PMC1683312

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Europe PubMed Central

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1714233

6 November 2022

https://europepmc.org/articles/PMC1683312?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1714233

6 November 2022

American Journal of Human Genetics

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49

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2

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421-8

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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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683312

7 April 2017

Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683312

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683312

7 April 2017

Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683312

7 April 2017

Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobilinogen deaminase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683312

7 April 2017

Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683312

28 September 2017

Dissociation kinetics of 19 base paired oligonucleotide-DNA duplexes containing different single mismatched base pairs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683312

28 September 2017

Enzymes of the heme biosynthesis pathway: recent advances in molecular genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683312

28 September 2017

Availability of porphobilinogen controls appearance of porphobilinogen deaminase activity in Escherichia coli K-12.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683312

28 September 2017

Fidelity of DNA synthesis by the Thermus aquaticus DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683312

28 September 2017

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683312

28 September 2017

Tissue-specific splicing mutation in acute intermittent porphyria.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683312

28 September 2017

Evidence that the pyrromethane cofactor of hydroxymethylbilane synthase (porphobilinogen deaminase) is bound to the protein through the sulphur atom of cysteine-242.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683312

30 May 2018

DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1714233

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence analysis of a human gene responsible for drug resistance: a rapid method for manual and automated direct sequencing of products generated by the polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/1714233

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1714233

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1714233

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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