| http://purl.uniprot.org/citations/33365504 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/33365504 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/33365504 | http://www.w3.org/2000/01/rdf-schema#comment | "Leber's hereditary optic neuropathy (LHON) is a maternally inherited eye disease. In our previous investigations, we have reported the spectrum and frequency of mitochondrial MT-ND1, MT-ND4 and MT-ND6 gene in Chinese LHON population. This study aimed to assess the molecular epidemiology of MT-TT mutations in Chinese families with LHON. A cohort of 352 Chinese Han probands lacking the known LHON-associated mtDNA mutations and 376 control subjects underwent molecular analysis of mtDNA. All variants were evaluated for evolutionary conservation, structural and functional consequences. Fifteen variants were identified in the MT-TT gene by mitochondrial genome analysis of LHON pedigrees, which was substantially higher than that of individuals from general Chinese populations. The incidences of the two known LHON-associated mutations, m.15927G > A and m.15951A > G, were 2.27% and 1.14%, respectively. Nine putative LHON-associated variants were identified in 20 probands, translated into 2.1% cases of this cohort. Moreover, mtDNAs in 41 probands carrying the MT-TT mutation(s) were widely dispersed among nine Eastern Asian haplogroups. Our results suggest that the MT-TT gene is a mutational hotspot for these 352 Chinese families lacking the known LHON-associated mutations. These data further showed the molecular epidemiology of MT-TT mutations in Chinese Han LHON pedigrees."xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.org/dc/terms/identifier | "doi:10.1080/23802359.2019.1627921"xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/author | "Chen J."xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/author | "Chen J."xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/author | "Ji Y."xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/author | "Ji Y."xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/author | "Xu M."xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/author | "Xu M."xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/author | "Zhang J."xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/author | "Zhang J."xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/author | "Guan M.X."xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/author | "Guan M.X."xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/author | "Lyu Y."xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/author | "Lyu Y."xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/date | "2019"xsd:gYear |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/date | "2019"xsd:gYear |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/name | "Mitochondrial DNA B Resour"xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/name | "Mitochondrial DNA B Resour"xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/pages | "2266-2280"xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/pages | "2266-2280"xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/title | "Frequency and spectrum of MT-TT variants associated with Leber's hereditary optic neuropathy in a Chinese cohort of subjects."xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/title | "Frequency and spectrum of MT-TT variants associated with Leber's hereditary optic neuropathy in a Chinese cohort of subjects."xsd:string |
| http://purl.uniprot.org/citations/33365504 | http://purl.uniprot.org/core/volume | "4"xsd:string |