(Q71958931)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635464%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

title

Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635464%20AND%20SRC:MED&resulttype=core&format=json

acute intermittent porphyria

22 October 2019

main subject

1 reference

W E Schreiber

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635464%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

F Fong

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635464%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

B A Nassar

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635464%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

A Jamani

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635464%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

publication date

1 August 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635464%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635464%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

volume

96

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635464%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635464%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

page(s)

161-166

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635464%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00207373

22 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

The Diagnosis of Acute Intermittent Porphyria: Usefulness and Limitations of the Erythrocyte Uroporphyrinogen I Synthase Assay

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

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

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

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

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 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

Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene.

1 reference

12 December 2020

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

1 reference

12 December 2020

ELISA for measuring porphobilinogen deaminase in human erythrocytes

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

Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of 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

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

1 reference

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

Molecular diagnosis of acute intermittent porphyria by analysis of DNA extracted from hair roots

1 reference

12 December 2020

Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation

1 reference

12 December 2020

PCR detection of a G/T polymorphism at exon 10 of the porphobilinogen deaminase gene (PBG-D).

1 reference

12 December 2020

Single-strand conformation polymorphism (SSCP) analysis applied to the diagnosis of acute intermittent porphyria

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00207373

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635464%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference