(Q24559969)

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Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria

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title

Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria (English)

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main subject

Sweden

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patient

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acute intermittent porphyria

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J S Lee

1

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M Anvret

series ordinal

2

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language of work or name

English

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publication date

1 December 1991

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published in

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

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volume

88

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issue

23

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page(s)

10912-5

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cites work

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53042

retrieved

24 March 2017

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

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53042

retrieved

24 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53042

retrieved

24 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53042

retrieved

24 March 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

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53042

retrieved

27 September 2017

Nonsense mutations in the human beta-globin gene affect mRNA metabolism

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53042

retrieved

27 September 2017

Tissue-specific splicing mutation in acute intermittent porphyria.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53042

retrieved

27 September 2017

Structural hemoglobin variants that produce the phenotype of thalassemia

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53042

retrieved

27 September 2017

PCR detection of a G/T polymorphism at exon 10 of the porphobilinogen deaminase gene (PBG-D).

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53042

retrieved

27 September 2017

Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53042

retrieved

30 May 2018

DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1961762

retrieved

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1961762

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haplotyping of the human porphobilinogen deaminase gene in acute intermittent porphyria by polymerase chain reaction

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1961762

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1961762

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative Dideoxy Sequencing of Double-Stranded DNA by Cyclic Reactions Using Taq Polymerase

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1961762

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.88.23.10912

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ResearchGate publication ID

21193768

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(Q24559969)

Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria

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