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

Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.

Clinical genetics - 1 Mar 2013

Li M, Pang S Y Y, Song Y, Kung M H W, Ho S-L, Sham P-C

Abstract excerpt

Autosomal dominant spinocerebellar ataxias (SCA) constitute a heterogeneous group of inherited disorders. The transglutaminase 6 (TGM6) gene was recently suggested as a SCA causative gene in Chinese SCA families. In this study, two affected members of a three-generation Chinese family with SCA characterized by progressive cerebellar ataxia and lower limb pyramidal signs were subjected to whole exome sequencing....

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
Share to Family Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Models, Molecular

Share to Pedigree

Share to Protein Structure, Tertiary

Share to Spinocerebellar Ataxias

Share to Transglutaminases

Source

Identifiers

PMID: 22554020
DOI: 10.1111/j.1399-0004.2012.01895.x

Genes

TGM6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.PMID 22554020Read ↗

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.Semantic proximity Read ↗

Spinocerebellar ataxia 35Semantic proximity Read ↗

A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.Semantic proximity Read ↗

TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study.Semantic proximity Read ↗

A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia.Semantic proximity Read ↗

Spinocerebellar Ataxia Type 28 in a Chinese Pedigree: A Case Report and Literature ReviewSemantic proximity Read ↗

A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.Semantic proximity Read ↗

The dynamic mutation investigation and whole exome sequencing in a cohort of Chinese autosomal dominant cerebellar ataxia patientsSemantic proximity Read ↗

Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German FamilySemantic proximity Read ↗

Spinocerebellar ataxia type 6 in Mainland China: molecular and clinical features in four families.Semantic proximity Read ↗

Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.Semantic proximity Read ↗

Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family.Semantic proximity Read ↗

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