| http://purl.uniprot.org/citations/18583168 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18583168 | http://www.w3.org/2000/01/rdf-schema#comment | "Leigh syndrome is a neuropathological disorder with typical morphological changes in brain, appearing regardless of diverse molecular background. One of the most common enzymatic defects in Leigh patients is cytochrome c oxidase deficiency associated with recessive mutations in the SURF1 gene. To assess the SURF1 mutation profile among Polish patients we studied 41 affected children from 34 unrelated families by PCR-SSCP and sequencing. Four novel mutations, c.39delG, c.752-1G>C, c.800_801insT, c.821A>G, and five described pathogenic changes, c.311_312insAT312_321del10, c.688C>T, c.704T>C, c.756_757delCA, c.845_846delCT, were identified in 85.3% of analysed probands. One mutation, c.845_846delCT, was identified in 77.6% of SURF1 alleles. Up to now, it has been reported only in 9% of alleles in other parts of the world. The deletion was used as LS(SURF1-) marker in population studies. Eight heterozygous carriers of the mutation were found in a cohort of 2890 samples. The estimated c.845_846delCT allele frequency is 1:357 (0.28+/-0.2%), and the lowest predicted LS(SURF1-) frequency in Poland 1:126,736.births. Relatively high frequency of LS(SURF1-) in Poland with remarkable c.845_846delCT mutation dominance allows one to start the differential diagnosis of LS in each patient of Polish (and probably Slavonic) origin from the direct search for c.845_846delCT SURF1 mutation."xsd:string |
| http://purl.uniprot.org/citations/18583168 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ejpn.2008.03.009"xsd:string |
| http://purl.uniprot.org/citations/18583168 | http://purl.uniprot.org/core/author | "Pronicka E."xsd:string |
| http://purl.uniprot.org/citations/18583168 | http://purl.uniprot.org/core/author | "Piekutowska-Abramczuk D."xsd:string |
| http://purl.uniprot.org/citations/18583168 | http://purl.uniprot.org/core/author | "Pronicki M."xsd:string |
| http://purl.uniprot.org/citations/18583168 | http://purl.uniprot.org/core/author | "Sykut-Cegielska J."xsd:string |
| http://purl.uniprot.org/citations/18583168 | http://purl.uniprot.org/core/author | "Krajewska-Walasek M."xsd:string |
| http://purl.uniprot.org/citations/18583168 | http://purl.uniprot.org/core/author | "Popowska E."xsd:string |
| http://purl.uniprot.org/citations/18583168 | http://purl.uniprot.org/core/author | "Karczmarewicz E."xsd:string |
| http://purl.uniprot.org/citations/18583168 | http://purl.uniprot.org/core/author | "Bielecka L."xsd:string |
| http://purl.uniprot.org/citations/18583168 | http://purl.uniprot.org/core/author | "Szymanska-Dembinska T."xsd:string |
| http://purl.uniprot.org/citations/18583168 | http://purl.uniprot.org/core/author | "Tylek-Lemanska D."xsd:string |
| http://purl.uniprot.org/citations/18583168 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/18583168 | http://purl.uniprot.org/core/name | "Eur J Paediatr Neurol"xsd:string |
| http://purl.uniprot.org/citations/18583168 | http://purl.uniprot.org/core/pages | "146-153"xsd:string |
| http://purl.uniprot.org/citations/18583168 | http://purl.uniprot.org/core/title | "High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients."xsd:string |
| http://purl.uniprot.org/citations/18583168 | http://purl.uniprot.org/core/volume | "13"xsd:string |
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