(Q28207749)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301948

10 September 2022

Peltonen L

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301948

10 September 2022

Pihlaja H

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301948

10 September 2022

Mustajoki P

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301948

Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect

10 September 2022

language of work or name

English

0 references

publication date

1992

0 references

published in

Human Mutation

0 references

volume

1

0 references

issue

5

0 references

page(s)

392-6

0 references

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

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://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

Intermittent Acute Porphyria — Demonstration of a Genetic Defect in Porphobilinogen Metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

Hereditary hepatic porphyrias in Finland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

Assignment of human porphobilinogen deaminase to 11q24.1----q24.2 by in situ hybridization and gene dosage studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

Molecular genetics of porphyrias

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010508

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380010508

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017