دورية أكاديمية
Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder.
| العنوان: | Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder. |
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| المؤلفون: | Bertolin C, Vettori A, Perini GI, Peruzzi P, Mostacciuolo ML, Vazza G., MAGRI, Chiara, BARLATI, Sergio |
| المساهمون: | Bertolin, C, Magri, Chiara, Barlati, Sergio, Vettori, A, Perini, Gi, Peruzzi, P, Mostacciuolo, Ml, Vazza, G. |
| سنة النشر: | 2011 |
| المجموعة: | Università degli Studi di Brescia: OPENBS - Open Archive UniBS |
| الوصف: | The present study aims at investigating the association between common and rare variants of mitochondrial DNA (mtDNA), and increased risk of schizophrenia (SZ) and bipolar disorder (BPD) in a cohort of patients originating from the same Italian population. The distribution of the major European mtDNA haplogroups was determined in 89 patients and their frequencies did not significantly differ from those observed in the Italian population. Moreover, 27 patients with high probability of having inherited the disease from the maternal side were selected for whole mitochondrial genome sequencing to investigate the possible presence of causative point mutations. Overall, 213 known variants and 2 novel changes were identified, but none of them was predicted to have functional effects. Hence, none of the sequence changes we found in our sample could explain the maternal component of SZ and BPD predisposition.Journal of Human Genetics advance online publication, 13 October 2011; doi:10.1038/jhg.2011.111. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/21993419; info:eu-repo/semantics/altIdentifier/wos/WOS:000298628600012; volume:56; firstpage:869; lastpage:872; numberofpages:4; journal:JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11379/94509Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84255200647; http://dx.doi.org/10.1038/jhg.2011.111Test |
| DOI: | 10.1038/jhg.2011.111 |
| الإتاحة: | https://doi.org/10.1038/jhg.2011.111Test http://hdl.handle.net/11379/94509Test |
| رقم الانضمام: | edsbas.82810BE0 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/jhg.2011.111 |
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