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

[Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2016

Xie Bobo, Luo Jingsi, Fan Xin, Chen Rongyu, Wang Jin, Zhang Shujie, Li Wang, Chen Shaoke

Abstract excerpt

OBJECTIVE: To explore the molecular etiology for a Chinese family affected with isolated methylmalonic acidemia (MMA). METHODS: Potential mutations of MUT, MMAA and MMAB genes in the proband were screened by PCR and Sanger sequencing. The pathogenicity of identified mutations was analyzed using Polyphen2, SIFT, HSF, DNAMAN 6.0 and Swiss-PdbViewer4.1.0 software. RESULTS: Two novel mutations of the MUT gene,...

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 Asian People

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

Share to Infant

Share to Methylmalonyl-CoA Mutase

Share to Mutation, Missense

Share to Point Mutation

Share to Sequence Alignment

Source

Identifiers

PMID: 27060300
DOI: 10.3760/cma.j.issn.1003-9406.2016.02.002

Genes

MMAA
MMAB

Variants

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia].PMID 27060300Read ↗

Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.Semantic proximity Read ↗

[Analysis of MUT gene mutations in a patient with isolated methylmalonic acidemia].Semantic proximity Read ↗

[Analysis of the MUT gene mutations in patients with methylmalonic acidemia].Semantic proximity Read ↗

Clinical characteristics and gene mutation analysis of methylmalonic aciduria.Semantic proximity Read ↗

Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.Semantic proximity Read ↗

Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria.Semantic proximity Read ↗

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

Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia.Semantic proximity Read ↗

Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.Semantic proximity Read ↗

Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases.Semantic proximity Read ↗

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemiaSemantic proximity Read ↗

[Analysis of MUT gene mutations and prenatal diagnosis for 20 pedigrees affected with isolated methylmalonic aciduria].Semantic proximity Read ↗

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