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http://purl.uniprot.org/citations/15300621http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/15300621http://www.w3.org/2000/01/rdf-schema#comment"

Objective

To explore new mutation in phenylalanine hydroxylase (PAH) gene.

Methods

The PAH genes from 40 phenylketonuria (PKU) patients and 30 normal controls were screened by PCR-single strand conformation polymorphism (SSCP) and further sequencing.

Results

Eleven mutations and 3 polymorphisms in PAH gene were found. No abnormalities in the PAH gene from 30 controls were detected.

Conclusion

M276K, M276R, 280insT, IVS10nt+32T-->A, IVS4nt+47C-->T were demonstrated as novel mutations in comparison with the PAH mutation database. One mission mutation (H290R) was first documented in Chinese PKU gene."xsd:string
http://purl.uniprot.org/citations/15300621http://purl.uniprot.org/core/author"Zhang Z."xsd:string
http://purl.uniprot.org/citations/15300621http://purl.uniprot.org/core/author"Xu J."xsd:string
http://purl.uniprot.org/citations/15300621http://purl.uniprot.org/core/author"Jiang J.H."xsd:string
http://purl.uniprot.org/citations/15300621http://purl.uniprot.org/core/author"Cheng G."xsd:string
http://purl.uniprot.org/citations/15300621http://purl.uniprot.org/core/author"He Y.S."xsd:string
http://purl.uniprot.org/citations/15300621http://purl.uniprot.org/core/author"Wang F.H."xsd:string
http://purl.uniprot.org/citations/15300621http://purl.uniprot.org/core/author"Peng S.X."xsd:string
http://purl.uniprot.org/citations/15300621http://purl.uniprot.org/core/author"Jing R.J."xsd:string
http://purl.uniprot.org/citations/15300621http://purl.uniprot.org/core/date"2004"xsd:gYear
http://purl.uniprot.org/citations/15300621http://purl.uniprot.org/core/name"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"xsd:string
http://purl.uniprot.org/citations/15300621http://purl.uniprot.org/core/pages"305-308"xsd:string
http://purl.uniprot.org/citations/15300621http://purl.uniprot.org/core/title"[Six novel mutations in PAH gene detected by sequencing]."xsd:string
http://purl.uniprot.org/citations/15300621http://purl.uniprot.org/core/volume"21"xsd:string
http://purl.uniprot.org/citations/15300621http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/15300621
http://purl.uniprot.org/citations/15300621http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/15300621
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http://purl.uniprot.org/uniprot/#_Q16268-mappedCitation-15300621http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/15300621
http://purl.uniprot.org/uniprot/#_S6C6B5-mappedCitation-15300621http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/15300621
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