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

[Gene mutation and clinical characteristics of a Chinese Uygur family with spinocerebellar ataxia type 12].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2011

LI Hai-tao, LEI Jing, MA Jian-hua, YU Jia, ZHANG Xiao-ning

Abstract excerpt

OBJECTIVE: To investigate the CAG trinucleotide repeat expansion and clinical characteristics of a Chinese Uygur family with spinocerebellar ataxia type 12 (SCA12) in Xinjiang Uygur Autonomous Region. METHODS: In the Uygur SCA12 family, 6 patients and 54 "healthy" members were analyzed by polymerase chain reaction, agarose gel electrophoresis, recombinant DNA technology by T-Vector cloning and restriction enzyme...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Case-Control Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Polymerase Chain Reaction

Share to Sequence Analysis, DNA

Share to Spinocerebellar Ataxias

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 21462122
DOI: 10.3760/cma.j.issn.1003-9406.2011.02.004

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

[Gene mutation and clinical characteristics of a Chinese Uygur family with spinocerebellar ataxia type 12].PMID 21462122Read ↗

Trinucleotide repeat expansion of spinocerebellar ataxia (SCA1) found in a Chinese family.Semantic proximity Read ↗

[Clinical characteristics and molecular biology of hereditary spinocerebellar ataxia type 7: study of 3 Chinese families].Semantic proximity Read ↗

[Molecular and prenatal diagnosis of a pedigree with spinocerebellar ataxia].Semantic proximity Read ↗

Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases.Semantic proximity Read ↗

[Recent advances in clinical and genetic research of spinocerebellar ataxia type 36].Semantic proximity Read ↗

[Gene diagnosis and CAG repeat analysis of spinocerebellar ataxia cases of Guangxi region].Semantic proximity Read ↗

[The study of clinical characteristics and molecular genetics in a large spinocerebellar ataxia3 pedigree].Semantic proximity Read ↗

[Polynucleotide repeat expansion of nine spinocerebellar ataxia subtypes and dentatorubral-pallidoluysian atrophy in healthy Chinese Han population].Semantic proximity Read ↗

[Analysis and application of SCA1 and SCA3/MJD gene CAG repeats in Han population in Northeastern China].Semantic proximity Read ↗

Analysis of spinocerebellar ataxia type 2 in Gunma Prefecture in Japan: CAG trinucleotide expansion and clinical characteristics.Semantic proximity Read ↗

Spinocerebellar ataxia type 1 in China: molecular analysis and genotype-phenotype correlation in 5 families.Semantic proximity Read ↗

Identification of 46 CAG repeats within PPP2R2B as probably the shortest pathogenic allele for SCA12.Semantic proximity Read ↗

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