(Q24635350)

English

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

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scholarly article

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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 (English)

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acute intermittent porphyria

1 reference

based on heuristic

inferred from title

Felix W M De Rooij

3

object named as

F de Rooij

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author name string

B Grandchamp

1

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C Picat

2

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C Beaumont

4

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P Wilson

5

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J C Deybach

6

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Y Nordmann

7

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language of work or name

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publication date

25 August 1989

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Nucleic Acids Research

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17

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6637-49

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16

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=318356

7 April 2017

A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=318356

7 April 2017

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=318356

7 April 2017

Organization and expression of eucaryotic split genes coding for proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=318356

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=318356

7 April 2017

Transcription of the dystrophin gene in human muscle and non-muscle tissue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=318356

7 April 2017

Splicing of messenger RNA precursors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=318356

7 April 2017

Improved free-energy parameters for predictions of RNA duplex stability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=318356

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=318356

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=318356

27 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=318356

27 September 2017

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=318356

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=318356

30 May 2018

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=318356

30 May 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2789372

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The spectrophotometric determination of uroporphyrinogen I synthetase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/2789372

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2789372

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2789372

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification of porphobilinogen deaminase from human erythrocytes by fast protein liquid chromatography

1 reference

https://pubmed.ncbi.nlm.nih.gov/2789372

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2789372

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular basis of beta-thalassemia in Lebanon: application to prenatal diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2789372

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/2789372

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/NAR/17.16.6637

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