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

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with N-acetylglutamate synthase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2020

Chen Jia, Yuan Huizhen, Xie Kang, Guo Zhen, Yang Yan, Zou Yongyi, Chen Ge, Liu Yanqiu

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with N-acetylglutamate synthase deficiency. METHODS: Trio whole exome sequencing (WES) was carried out for the pedigree. Pathogenicity of the identified variant was predicted based on the latest recommendation of the American College of Medical Genetics and Genomics (ACMG). Prenatal diagnosis was provided for subsequent pregnancy through...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Mutation

Share to Pedigree

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 33306822
DOI: 10.3760/cma.j.cn511374-20200203-00055

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

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with N-acetylglutamate synthase deficiency].PMID 33306822Read ↗

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Canavan disease].Semantic proximity Read ↗

[Genetic diagnosis of a Chinese pedigree affected with Alazami syndrome].Semantic proximity Read ↗

[Genetic analysis of a Chinese pedigree affected with Mucopolysaccharidosis type ⅢA].Semantic proximity Read ↗

[Identification of a novel variant of NHS gene underlying Nance-Horan syndrome].Semantic proximity Read ↗

Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene.Semantic proximity Read ↗

[Whole exome sequencing analysis and prenatal diagnosis for a Chinese pedigree affected with microphthalmia].Semantic proximity Read ↗

[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia].Semantic proximity Read ↗

[Preimplantation genetic testing for a Chinese pedigree affected with Primary carnitine deficiency].Semantic proximity Read ↗

[Analysis of gene variant in a Chinese pedigree with preaxial polydactyly].Semantic proximity Read ↗

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Spastic paraplegia type 56 due to variants of CYP2U1 gene].Semantic proximity Read ↗

[Differential diagnosis of a Chinese pedigree with methylmalonic acidemia by next-generation sequencing].Semantic proximity Read ↗

[Analysis of a pedigree affected with propionic acidemia by trio whole exome sequencing].Semantic proximity Read ↗

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