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

[ASS1 gene mutation in a neonate with citrullinemia type I].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Oct 2014

Xie Bobo, Chen Rongyu, Wang Jin, Luo Jingsi, Li Wang, Chen Shaoke

Abstract excerpt

OBJECTIVE: To identify the genetic mutation in ASS1 gene in a Chinese family with citrullinemia typeI, which may provide a basis for the diagnosis and genetic counseling. METHOD: Genomic DNA was isolated from peripheral blood samples of the family members. Mutation analysis of ASS1 gene was carried out by PCR and Sanger sequencing. Biostructural analysis of the mutated ASS1 was completed by Phyre server. RESULT:...

Read the complete abstract on PubMed

Topics

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

Share to Argininosuccinate Synthase
Share to Asian People
Share to Citrullinemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Infant, Newborn

Share to Mutation

Source

Identifiers

PMID: 25537548

Genes

ASS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[ASS1 gene mutation in a neonate with citrullinemia type I].PMID 25537548Read ↗

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

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

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

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

[Identification of a homozygous ASS1 mutation in a child with citrullinemia type Ⅰ with high-melting curve method].Semantic proximity Read ↗

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

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

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

Citrullinaemia type I: a common mutation in the Pacific Island population.Semantic proximity Read ↗

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

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