Results

RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/citations/16086267http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/16086267http://www.w3.org/2000/01/rdf-schema#comment"

Objective

To study the characteristics of the mutation of small heat-shock protein 22 (HSP22) gene in Chinese patients with Charcot-Marie-Tooth (CMT) disease.

Methods

A CMT2L proband with 423(G--> T) mutation in HSP22 gene had been studied and reported by the present authors. In this study, mutation analysis of HSP22 gene was performed using polymerase chain reaction and DNA direct sequencing in 114 CMT probands.

Results

In the 114 CMT probands, a 582(C--> T)(T194T)samesense mutation was found in two unrelated families.

Conclusion

The rate of HSP22 gene mutation in Chinese patients with CMT is as low as 0.87%(1/115)."xsd:string
http://purl.uniprot.org/citations/16086267http://purl.uniprot.org/core/author"Chen B."xsd:string
http://purl.uniprot.org/citations/16086267http://purl.uniprot.org/core/author"Cai F."xsd:string
http://purl.uniprot.org/citations/16086267http://purl.uniprot.org/core/author"Zhang C."xsd:string
http://purl.uniprot.org/citations/16086267http://purl.uniprot.org/core/author"Guo P."xsd:string
http://purl.uniprot.org/citations/16086267http://purl.uniprot.org/core/author"Luo W."xsd:string
http://purl.uniprot.org/citations/16086267http://purl.uniprot.org/core/author"Liu X.M."xsd:string
http://purl.uniprot.org/citations/16086267http://purl.uniprot.org/core/author"Yan X.X."xsd:string
http://purl.uniprot.org/citations/16086267http://purl.uniprot.org/core/author"Xia K."xsd:string
http://purl.uniprot.org/citations/16086267http://purl.uniprot.org/core/author"Tang B.S."xsd:string
http://purl.uniprot.org/citations/16086267http://purl.uniprot.org/core/author"Zhang R.X."xsd:string
http://purl.uniprot.org/citations/16086267http://purl.uniprot.org/core/author"Zhang F.F."xsd:string
http://purl.uniprot.org/citations/16086267http://purl.uniprot.org/core/author"Hu Z.M."xsd:string
http://purl.uniprot.org/citations/16086267http://purl.uniprot.org/core/author"Zhao G.H."xsd:string
http://purl.uniprot.org/citations/16086267http://purl.uniprot.org/core/date"2005"xsd:gYear
http://purl.uniprot.org/citations/16086267http://purl.uniprot.org/core/name"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"xsd:string
http://purl.uniprot.org/citations/16086267http://purl.uniprot.org/core/pages"361-363"xsd:string
http://purl.uniprot.org/citations/16086267http://purl.uniprot.org/core/title"Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease."xsd:string
http://purl.uniprot.org/citations/16086267http://purl.uniprot.org/core/volume"22"xsd:string
http://purl.uniprot.org/citations/16086267http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/16086267
http://purl.uniprot.org/citations/16086267http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/16086267
http://purl.uniprot.org/uniprot/#_Q9UJY1-mappedCitation-16086267http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/16086267
http://purl.uniprot.org/uniprot/Q9UJY1http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/16086267