High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria (Q72214741)

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24 October 2019

title

High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8096492%20AND%20SRC:MED&resulttype=core&format=json

acute intermittent porphyria

24 October 2019

main subject

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2

F de Rooij

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24 October 2019

author name string

X F Gu

1

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24 October 2019

J S Lee

3

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24 October 2019

K Te Velde

4

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24 October 2019

J C Deybach

5

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24 October 2019

Y Nordmann

6

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24 October 2019

B Grandchamp

7

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24 October 2019

publication date

1 March 1993

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24 October 2019

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volume

91

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issue

2

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24 October 2019

page(s)

128-130

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https://scigraph.springernature.com/pub.10.1007/bf00222712

24 October 2019

exact match

0 references

cites work

Rat porphobilinogen deaminase cDNA: nucleotide sequence of the erythropoletic form

1 reference

12 December 2020

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

1 reference

12 December 2020

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support.

1 reference

12 December 2020

Denaturing gradient gel electrophoresis for rapid detection of latent carriers of a subtype of acute intermittent porphyria with normal erythrocyte porphobilinogen deaminase activity

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

Application of natural and amplification created restriction sites for the diagnosis of PKU mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Tissue-specific splicing mutation in acute intermittent porphyria.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

Rapid, nonradioactive screening for activating ras oncogene mutations using PCR-primer introduced restriction analysis (PCR-PIRA)

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00222712

1 reference

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24 October 2019

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