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http://purl.uniprot.org/citations/25119913http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
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Objective

To investigate the genetic cause for a large family affected with typeⅠosteogenesis imperfecta.

Methods

Genomic DNA was extracted from peripheral venous blood samples. The entire coding region and intron-exon boundaries of the COL1A1 gene were subjected to PCR amplification and direct sequencing. Total RNA was also extracted from immortalized B cell lines from the patients, with the first strand of cDNA synthesized with an oligo(dT)18 primer. The PCR products were directly sequenced using the TA cloned plasmid.

Results

A c.3208G>A mutation has been identified in the COL1A1 gene, which can alter the splicing pattern of mRNA.

Conclusion

A novel splicing mutation c.3208G>A of the COL1A1 gene probably underlies the disease."xsd:string
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http://purl.uniprot.org/citations/25119913http://purl.uniprot.org/core/author"Guo Z."xsd:string
http://purl.uniprot.org/citations/25119913http://purl.uniprot.org/core/author"Song Y."xsd:string
http://purl.uniprot.org/citations/25119913http://purl.uniprot.org/core/author"Zhao D."xsd:string
http://purl.uniprot.org/citations/25119913http://purl.uniprot.org/core/author"Jin X."xsd:string
http://purl.uniprot.org/citations/25119913http://purl.uniprot.org/core/author"Kong J."xsd:string
http://purl.uniprot.org/citations/25119913http://purl.uniprot.org/core/date"2014"xsd:gYear
http://purl.uniprot.org/citations/25119913http://purl.uniprot.org/core/name"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"xsd:string
http://purl.uniprot.org/citations/25119913http://purl.uniprot.org/core/pages"472-475"xsd:string
http://purl.uniprot.org/citations/25119913http://purl.uniprot.org/core/title"[Identification of a novel splicing mutation in COL1A1 gene in a Chinese family affected with typeⅠosteogenesis imperfecta]."xsd:string
http://purl.uniprot.org/citations/25119913http://purl.uniprot.org/core/volume"31"xsd:string
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