Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria (Q33682995)

28 July 2017

title

Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria (English)

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acute intermittent porphyria

28 July 2017

main subject

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Lundin G

1

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28 July 2017

Hashemi J

2

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28 July 2017

Floderus Y

3

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28 July 2017

Thunell S

4

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28 July 2017

Sagen E

5

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28 July 2017

Laegreid A

6

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28 July 2017

Wassif W

7

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28 July 2017

Peters T

8

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28 July 2017

Anvret M

9

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28 July 2017

language of work or name

English

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publication date

1 December 1995

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

32

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28 July 2017

issue

12

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28 July 2017

page(s)

979-981

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Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051782

The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051782

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051782

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051782

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051782

Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051782

Identification of five novel mutations in the porphobilinogen deaminase gene.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051782

Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene

30 October 2018

1 reference

12 December 2020

Acute Intermittent Porphyria: Diagnostic Conundrums

1 reference

12 December 2020

Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping

1 reference

12 December 2020

Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria

1 reference

12 December 2020

Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria

1 reference

12 December 2020

Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis

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12 December 2020

Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles

1 reference

12 December 2020

Genetic carrier detection in Norwegian families with acute intermittent porphyria

1 reference

12 December 2020

Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation

1 reference

12 December 2020

Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal

1 reference

12 December 2020

Diagnosis of acute intermittent porphyria in northern Sweden: an evaluation of mutation analysis and biochemical methods

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.12.979

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28 July 2017

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28 July 2017

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