(Q72679740)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270254%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270254%20AND%20SRC:MED&resulttype=core&format=json

acute intermittent porphyria

28 October 2019

main subject

1 reference

2

F de Rooij

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270254%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

author name string

X F Gu

1

1 reference

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28 October 2019

G Voortman

3

1 reference

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28 October 2019

K Te Velde

4

1 reference

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28 October 2019

J C Deybach

5

1 reference

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28 October 2019

Y Nordmann

6

1 reference

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28 October 2019

B Grandchamp

7

1 reference

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28 October 2019

publication date

1 January 1994

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28 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270254%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

93

1 reference

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28 October 2019

issue

1

1 reference

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28 October 2019

page(s)

47-52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270254%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00218912

28 October 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

Structure of porphobilinogen deaminase reveals a flexible multidomain polymerase with a single catalytic site

1 reference

12 December 2020

DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria

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

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

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

Detection and localization of single base changes by denaturing gradient gel electrophoresis

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

DNA sequencing with chain-terminating inhibitors

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

High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of 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

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

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

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

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

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

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00218912

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270254%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference