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

Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.

International journal of molecular sciences - 12 Oct 2021

Zhang Yanping, Xiao Han, Xiong Qiuhong, Wu Changxin, Li Ping

Abstract excerpt

Acute intermittent porphyria (AIP) is an autosomal dominant genetic disease caused by a lack or decrease in hydroxymethylbilane synthase (HMBS) activity. It is characterized by acute nerve and visceral attacks caused by factors in the process of heme synthesis. The penetrance rate of this disease is low, and the heterogeneity is strong. Here, we reported two novel HMBS mutations from two unrelated Chinese AIP...

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Asian People

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

Share to HEK293 Cells

Share to Hydroxymethylbilane Synthase

Share to Porphyria, Acute Intermittent

Share to Protein Structure, Tertiary

Share to Sequence Alignment

Source

Open in PubMed Open full text

Identifiers

PMID: 34681668
DOI: 10.3390/ijms222011008
PMCID: PMC8541332

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

Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.PMID 34681668Read ↗

Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.Semantic proximity Read ↗

Identification and molecular analysis of 17 novel hydroxymethylbilane synthase mutations in 69 Chinese patients with acute intermittent porphyriaSemantic proximity Read ↗

Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild AnemiaSemantic proximity Read ↗

A splicing mutation in the hydroxymethylbilane synthase gene in a Japanese family with acute intermittent porphyria.Semantic proximity Read ↗

HMBS mutations in Chinese patients with acute intermittent porphyria.Semantic proximity Read ↗

Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.Semantic proximity Read ↗

Genetic Analysis and Prenatal Diagnosis of Acute Intermittent Porphyria Caused by Novel Classical Splicing Variant in the Insertion Region of 29-Residue Specific to Human HMBS ProteinSemantic proximity Read ↗

A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome.Semantic proximity Read ↗

Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.Semantic proximity Read ↗

Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria.Semantic proximity Read ↗

Recent advances in the epidemiology and genetics of acute intermittent porphyriaSemantic proximity Read ↗

Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.Semantic proximity Read ↗

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