(Q24618191)

2

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F W de Rooij

3

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K Hamer

4

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M Bogard

5

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J H Wilson

6

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J C Deybach

7

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Y Nordmann

8

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B Grandchamp

Journal of Clinical Investigation

9

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language of work or name

English

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publication date

November 1990

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published in

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volume

86

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issue

5

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page(s)

1511-6

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cites work

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=296897

An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells

7 April 2017

1 reference

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

7 April 2017

1 reference

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296897

Nucleotide sequence of the hemC locus encoding porphobilinogen deaminase of Escherichia coli K12.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296897

Rat porphobilinogen deaminase cDNA: nucleotide sequence of the erythropoletic form

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296897

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

27 September 2017

1 reference

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

27 September 2017

1 reference

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Fidelity of DNA polymerases in DNA amplification

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296897

Tissue-specific splicing mutation in acute intermittent porphyria.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296897

Evidence that pyridoxal phosphate modification of lysine residues (Lys-55 and Lys-59) causes inactivation of hydroxymethylbilane synthase (porphobilinogen deaminase).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296897

Isolation and characterisation of a cDNA clone for a chlorophyll synthesis enzyme from Euglena gracilis. The chloroplast enzyme hydroxymethylbilane synthase (porphobilinogen deaminase) is synthesised with a very long transit peptide in Euglena

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296897

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296897

The mouse porphobilinogen deaminase gene. Structural organization, sequence, and transcriptional analysis.

30 May 2018

1 reference

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DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria

30 May 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020