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http://purl.uniprot.org/citations/17680541http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/17680541http://www.w3.org/2000/01/rdf-schema#comment"

Objective

To detect parkin gene mutation of early-onset parkinsonism (EOP) by denaturing high performance liquid chromatography (DHPLC).

Methods

The blood cell genomic DNA of 82 EOP patients was isolated. Exons of parkin gene were amplified by PCR. The PCR products were detected by DHPLC. The sample with abnormal peak shape was sequenced.

Results

Three point mutations were identified in 82 EOP patients compared with 100 healthy controls. Mutations in intron include IVS1-39 G --> T and IVS9 +18 C --> T. The T1422C mutation was in coding region and resulted in 441 Cys --> Arg.

Conclusion

Three heterozygous mutations are found in sporadic EOP patients and genetic diagnosis of parkin gene by DHPLC is applicable in EOP patients."xsd:string
http://purl.uniprot.org/citations/17680541http://purl.uniprot.org/core/author"Li J."xsd:string
http://purl.uniprot.org/citations/17680541http://purl.uniprot.org/core/author"Jiang H."xsd:string
http://purl.uniprot.org/citations/17680541http://purl.uniprot.org/core/author"Shen L."xsd:string
http://purl.uniprot.org/citations/17680541http://purl.uniprot.org/core/author"Pan Q."xsd:string
http://purl.uniprot.org/citations/17680541http://purl.uniprot.org/core/author"Zhang X.W."xsd:string
http://purl.uniprot.org/citations/17680541http://purl.uniprot.org/core/author"Yan X.X."xsd:string
http://purl.uniprot.org/citations/17680541http://purl.uniprot.org/core/author"Zhang Y.H."xsd:string
http://purl.uniprot.org/citations/17680541http://purl.uniprot.org/core/author"Xia K."xsd:string
http://purl.uniprot.org/citations/17680541http://purl.uniprot.org/core/author"Tang B.S."xsd:string
http://purl.uniprot.org/citations/17680541http://purl.uniprot.org/core/author"Guo J.F."xsd:string
http://purl.uniprot.org/citations/17680541http://purl.uniprot.org/core/author"Mu Y.F."xsd:string
http://purl.uniprot.org/citations/17680541http://purl.uniprot.org/core/date"2007"xsd:gYear
http://purl.uniprot.org/citations/17680541http://purl.uniprot.org/core/name"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"xsd:string
http://purl.uniprot.org/citations/17680541http://purl.uniprot.org/core/pages"449-452"xsd:string
http://purl.uniprot.org/citations/17680541http://purl.uniprot.org/core/title"[Mutation detection of parkin gene by denaturing high performance liquid chromatography]."xsd:string
http://purl.uniprot.org/citations/17680541http://purl.uniprot.org/core/volume"24"xsd:string
http://purl.uniprot.org/citations/17680541http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/17680541
http://purl.uniprot.org/citations/17680541http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/17680541
http://purl.uniprot.org/uniprot/#_D3JZW5-mappedCitation-17680541http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17680541
http://purl.uniprot.org/uniprot/#_D3K2X1-mappedCitation-17680541http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17680541
http://purl.uniprot.org/uniprot/#_D3K2X2-mappedCitation-17680541http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17680541
http://purl.uniprot.org/uniprot/#_A0A0S2Z446-mappedCitation-17680541http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17680541
http://purl.uniprot.org/uniprot/#_A0A0S2Z447-mappedCitation-17680541http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17680541
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