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

Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.

Clinica chimica acta; international journal of clinical chemistry - 1 Jan 2015

Kimani Joseph Kagunda, Wei Tianying, Chol Kim, Li Ying, Yu Ping, Ye Sheng, Huang Xinwen, Qi Ming

Abstract excerpt

BACKGROUND: Classical citrullinemia (CTLN1) is an inborn error of the urea cycle caused by reduced/abolished activity of argininosuccinate synthetase due to mutations in the ASS1 gene. To determine the pathogenicity of novel variants detected in patients is often a huge challenge in molecular diagnosis. The purpose of our study was to characterize novel ASS1 gene mutations identified in CTLN1 patients. METHODS:...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Triphosphate
Share to Argininosuccinate Synthase

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

Share to Citrulline

Share to Citrullinemia

Share to Introns

Share to Models, Molecular

Share to RNA Splicing

Source

Identifiers

PMID: 25179242
DOI: 10.1016/j.cca.2014.08.028

Genes

ASS1

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.PMID 25179242Read ↗

Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.Semantic proximity Read ↗

Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.Semantic proximity Read ↗

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.Semantic proximity Read ↗

Identification of three novel mutations in fourteen patients with citrullinemia type 1.Semantic proximity Read ↗

Functional Profiling of 2,193 <i>ASS1</i> Missense Variants: Insights into Variant Pathogenicity and Epistatic Interactions in Citrullinemia Type ISemantic proximity Read ↗

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.Semantic proximity Read ↗

Early prediction of phenotypic severity in Citrullinemia Type 1Semantic proximity Read ↗

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.Semantic proximity Read ↗

[Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia].Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.Semantic proximity Read ↗

Molecular genetics of citrullinemia types I and II.Semantic proximity Read ↗

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