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

[Analysis of MAT1A gene mutations in a child affected with simple hypermethioninemia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2017

Sun Yun, Ma Dingyuan, Wang Yanyun, Yang Bin, Jiang Tao

Abstract excerpt

OBJECTIVE: To detect potential mutations of MAT1A gene in a child suspected with simple hypermethioninemia by MS/MS neonatal screening. METHODS: Clinical data of the child was collected. Genomic DNA was extracted by a standard method and subjected to targeted sequencing using an Ion AmpliseqTM Inherited Disease Panel. Detected mutations were verified by Sanger sequencing. RESULTS: The child showed no clinical...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Metabolism, Inborn Errors
Share to Family Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fathers

Share to Heterozygote

Share to Infant, Newborn

Share to Infant, Newborn, Diseases

Share to Methionine Adenosyltransferase

Share to Mothers

Source

Identifiers

PMID: 28186605
DOI: 10.3760/cma.j.issn.1003-9406.2017.01.023

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis of MAT1A gene mutations in a child affected with simple hypermethioninemia].PMID 28186605Read ↗

Genetic variation and clinical phenotype analysis of hypermethioninemia caused by MAT1A gene mutation: Case report.Semantic proximity Read ↗

[Newborn screening and variant analysis for methionine adenosyltransferase I/III deficiency].Semantic proximity Read ↗

[Analysis of ACAT1 gene variants in a patient with β-ketothiolase deficiency].Semantic proximity Read ↗

Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan.Semantic proximity Read ↗

Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China.Semantic proximity Read ↗

Analysis of five cases of hypermethioninemia diagnosed by neonatal screening.Semantic proximity Read ↗

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

[Diagnosis of a child with mitochondrial myopathy and cerebellar atrophy with ataxia due to compound heterozygous variants of MSTO1 gene].Semantic proximity Read ↗

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.Semantic proximity Read ↗

[Detection of pathogenic mutations for methylmalonic acidemia using new-generation semiconductor targeted sequencing].Semantic proximity Read ↗

Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotesSemantic proximity Read ↗

[Molecular pathology and DNA diagnosis of phenylketonuria and hypermethioninemia].Semantic proximity Read ↗

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