(Q72679748)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270256%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270256%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

author name string

G Lundin

1

1 reference

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28 October 2019

A Wedell

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270256%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

S Thunell

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270256%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

M Anvret

4

1 reference

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28 October 2019

publication date

1 January 1994

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28 October 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270256%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

93

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28 October 2019

issue

1

1 reference

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28 October 2019

page(s)

59-62

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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 October 2019

cites work

1 reference

12 December 2020

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

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

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

12 December 2020

Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene

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

PCR amplification of specific alleles (PASA) is a general method for rapidly detecting known single-base changes

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

Tissue-specific splicing mutation in acute intermittent porphyria.

1 reference

12 December 2020

Haplotyping of the human porphobilinogen deaminase gene in acute intermittent porphyria by polymerase chain reaction

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

Alternative Dideoxy Sequencing of Double-Stranded DNA by Cyclic Reactions Using Taq Polymerase

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

New DNA-analysis techniques (minireview)

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00218914

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270256%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference