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 gene mutations in Chinese patients with maple syrup urine disease.

Molecular genetics and metabolism - 1 Aug 2012

Yang Nan, Han Lianshu, Gu Xuefan, Ye Jun, Qiu Wenjuan, Zhang Huiwen, Gong Zhuwen, Zhang Yafen

Abstract excerpt

OBJECTIVE: Maple syrup urine disease (MSUD) is predominantly caused by mutations in the BCKDHA, BCKDHB and DBT genes, which encode for the E1α, E1β and E2 subunits of the branched-chain α-keto acid dehydrogenase complex, respectively. The aim of this study was to screen DNA samples from 16 Chinese MSUD patients and assess a potential correlation between genotype and phenotype. METHODS: BCKDHA, BCKDHB and DBT...

Read the complete abstract on PubMed

Topics

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

Share to 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Infant, Newborn

Share to Maple Syrup Urine Disease

Share to Mutant Proteins

Share to Mutation, Missense

Share to Protein Structure, Secondary

Source

Identifiers

PMID: 22727569
DOI: 10.1016/j.ymgme.2012.05.023

Genes

BCKDHB
DBT
BCKDHA

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

Analysis of gene mutations in Chinese patients with maple syrup urine disease.PMID 22727569Read ↗

Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations.Semantic proximity Read ↗

Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.Semantic proximity Read ↗

Molecular genetics of maple syrup urine disease in the Turkish population.Semantic proximity Read ↗

Identification of Four Novel Mutations in Chilean Patients with Various Forms of Maple Syrup Urine Disease Semantic proximity Read ↗

Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.Semantic proximity Read ↗

Molecular basis of various forms of maple syrup urine disease in Chilean patients.Semantic proximity Read ↗

Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.Semantic proximity Read ↗

Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease.Semantic proximity Read ↗

Two novel mutations in the BCKDHB gene that cause maple syrup urine disease.Semantic proximity Read ↗

In silico analysis of novel mutations in maple syrup urine disease patients from Iran.Semantic proximity Read ↗

Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.Semantic proximity Read ↗

Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis.Semantic proximity Read ↗

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