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

Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I.

Clinical biochemistry - 1 Feb 2013

Woo Hye In, Ki Chang-Seok, Lee Soo-Youn, Kim Jong-Won, Song Junghan, Jin Dong-Kyu, Park Won Soon, Lee Dong Hwan, Lee Yong-Wha, Park Hyung-Doo

Abstract excerpt

OBJECTIVES: Citrullinemia type I is a rare metabolic disorder and the distribution of mutations in the ASS1 gene varies among ethnic groups. We aimed to determine the molecular characteristics of citrullinemia type I in Korean patients. DESIGN AND METHODS: Biochemical and clinical findings were investigated and mutations in the ASS1 gene were identified using direct sequencing method in five patients with high...

Read the complete abstract on PubMed

Topics

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

Share to Neonatal Screening
Share to Republic of Korea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Age of Onset

Share to Argininosuccinate Synthase

Share to Citrulline

Share to Citrullinemia

Share to Gestational Age

Share to Mutation Rate

Source

Identifiers

PMID: 23099195
DOI: 10.1016/j.clinbiochem.2012.10.008

Genes

ASS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I.PMID 23099195Read ↗

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

Mutation analysis of Korean patients with citrullinemia.Semantic proximity Read ↗

[ASS1 gene mutation in a neonate with citrullinemia type I].Semantic proximity Read ↗

Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia.Semantic proximity Read ↗

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

Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).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 ↗

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

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

[Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I].Semantic proximity Read ↗

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