Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Acute intermittent porphyria: mutation analysis and identification of gene carriers in a German kindred by PCR-DGGE analysis.

Skin pharmacology and applied skin physiology - 1 Jan 2000

Petrides P E

Abstract excerpt

Acute intermittent porphyria (AIP) is the most frequent acute porphyria. Symptomatic patients and asymptomatic gene carriers are characterized by a reduction of their porphobilinogen-deaminase (PBG-D) activity to 50%, which is sufficient for porphyrin biosynthesis. PBG-D is encoded by two different mRNAs which are expressed in a tissue-specific manner. In classical AIP, the enzyme activity is reduced in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Electrophoresis
Share to Enzyme Inhibitors
Share to Hydroxymethylbilane Synthase

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Isoenzymes

Share to Models, Molecular

Share to Molecular Structure

Share to Polymerase Chain Reaction

Share to Porphyria, Acute Intermittent

Source

Identifiers

PMID: 10343207
DOI: 10.1159/000029859

Genes

AIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Acute intermittent porphyria: mutation analysis and identification of gene carriers in a German kindred by PCR-DGGE analysis.PMID 10343207Read ↗

Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.Semantic proximity Read ↗

Molecular diagnostics of acute intermittent porphyria.Semantic proximity Read ↗

Molecular analysis of acute intermittent porphyria: mutation screening in 20 patients in Germany reveals 11 novel mutations.Semantic proximity Read ↗

Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria.Semantic proximity Read ↗

A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria.Semantic proximity Read ↗

Porphobilinogen deaminase gene structure and molecular defects.Semantic proximity Read ↗

De Novo mutation found in the porphobilinogen deaminase gene in Slovak acute intermittent porphyria patient: molecular biochemical study.Semantic proximity Read ↗

Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.Semantic proximity Read ↗

Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase geneSemantic proximity Read ↗

Acute Intermittent PorphyriaSemantic proximity Read ↗

Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis.Semantic proximity Read ↗

Acute porphyrias in the Argentinean population: a review.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.