(Q72387808)

English

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

scientific article published on 01 May 1994

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168829%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

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 (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168829%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

acute intermittent porphyria

1 reference

based on heuristic

inferred from title

author name string

M Daimon

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168829%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

K Yamatani

2

1 reference

Europe PubMed Central

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26 October 2019

M Igarashi

3

1 reference

Europe PubMed Central

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26 October 2019

N Fukase

4

1 reference

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26 October 2019

Y Morita

5

1 reference

Europe PubMed Central

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26 October 2019

A Ogawa

6

1 reference

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26 October 2019

M Tominaga

7

1 reference

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26 October 2019

H Sasaki

8

1 reference

Europe PubMed Central

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26 October 2019

publication date

1 May 1994

1 reference

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26 October 2019

1 reference

Europe PubMed Central

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26 October 2019

93

1 reference

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26 October 2019

5

1 reference

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26 October 2019

533-537

1 reference

Europe PubMed Central

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26 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00202818

0 references

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/8168829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/8168829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/8168829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tissue-specific splicing mutation in acute intermittent porphyria.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/8168829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for latent acute intermittent porphyria: the value of measuring both leucocyte delta-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00202818

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168829%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168829%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

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