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

A novel G168X mutation and a recurrent 730-731delCT mutation of the porphobilinogen deaminase gene in Japanese patients with acute intermittent porphyria.

Blood cells, molecules & diseases - 1 Aug 2013

Susa Shinji, Daimon Makoto, Kato Takeo, Maeda Naoto

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Hydroxymethylbilane Synthase
Share to Japan
Share to Mutation

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

Share to Porphyria, Acute Intermittent

Share to Young Adult

Source

Identifiers

PMID: 23582379
DOI: 10.1016/j.bcmd.2013.02.008

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 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

A novel G168X mutation and a recurrent 730-731delCT mutation of the porphobilinogen deaminase gene in Japanese patients with acute intermittent porphyria.PMID 23582379Read ↗

Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral CenterSemantic proximity Read ↗

Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T).Semantic proximity Read ↗

May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.Semantic proximity Read ↗

Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria.Semantic proximity Read ↗

Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria.Semantic proximity Read ↗

Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria.Semantic proximity Read ↗

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

Detection of four novel mutations in the porphobilinogen deaminase gene in French Caucasian patients with acute intermittent porphyria.Semantic proximity Read ↗

[Three single nucleotide polymorphisms of porphobilinogen deaminase gene related to a Chinese patient with acute intermittent porphyria].Semantic proximity Read ↗

Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.Semantic proximity Read ↗

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

Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand.Semantic proximity Read ↗

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