Please use this identifier to cite or link to this item:
/library/oar/handle/123456789/99851| Title: | Diagnosis of mitochondrial disorders by whole exome sequencing |
| Authors: | Vella, Joanna Laurie, S. Borg, Joseph J. Soler, Doriette Vella, Norbert R. Aquilina, Josanne Said, Edith Borg, Isabella Felice, Alex E. |
| Keywords: | Mitochondrial DNA Gene mapping -- Malta Genomics -- Malta Human genome |
| Issue Date: | 2018 |
| Citation: | 痴别濒濒补,&#虫20;闯.,&#虫20;尝补耻谤颈别,&#虫20;厂.,&#虫20;叠辞谤驳,&#虫20;闯.闯.,&#虫20;厂辞濒别谤,&#虫20;顿.,&#虫20;痴别濒濒补,&#虫20;狈.,&#虫20;础辩耻颈濒颈苍补,&#虫20;闯鈥�.&#虫20;贵别濒颈肠别,础.贰.&#虫20;(2018).&#虫20;顿颈补驳苍辞蝉颈蝉&#虫20;辞蹿&#虫20;尘颈迟辞肠丑辞苍诲谤颈补濒&#虫20;诲颈蝉辞谤诲别谤蝉&#虫20;产测&#虫20;飞丑辞濒别&#虫20;别虫辞尘别&#虫20;蝉别辩耻别苍肠颈苍驳.&#虫20;贰耻谤辞辫别补苍&#虫20;贬耻尘补苍&#虫20;骋别苍别迟颈肠蝉&#虫20;颁辞苍蹿别谤别苍肠别&#虫20;颈苍&#虫20;肠辞苍箩耻苍肠迟颈辞苍&#虫20;飞颈迟丑&#虫20;迟丑别&#虫20;贰耻谤辞辫别补苍&#虫20;惭别别迟颈苍驳&#虫20;辞苍&#虫20;笔蝉测肠丑辞蝉辞肠颈补濒&#虫20;础蝉辫别肠迟蝉贰耻谤辞辫别补苍&#虫20;贬耻尘补苍&#虫20;骋别苍别迟颈肠蝉&#虫20;颁辞苍蹿别谤别苍肠别&#虫20;颈苍&#虫20;颁辞苍箩耻苍肠迟颈辞苍&#虫20;飞颈迟丑&#虫20;迟丑别&#虫20;贰耻谤辞辫别补苍&#虫20;惭别别迟颈苍驳&#虫20;辞苍&#虫20;笔蝉测肠丑辞蝉辞肠颈补濒&#虫20;础蝉辫别肠迟蝉&#虫20;辞蹿&#虫20;骋别苍别迟颈肠蝉,&#虫20;惭颈濒补苍. |
| Abstract: | A critical analysis of rare nuclear and mitochondrial gene mutations was carried out for each patient. Figure 2 describes preliminary results of the most likely causative variants which fit the phenotype of 4 patients. It was observed that a number of patients are heterozygous for more than one rare variant but no clear candidates were present. |
| URI: | https://www.um.edu.mt/library/oar/handle/123456789/99851 |
| Appears in Collections: | Scholarly Works - FacHScABS Scholarly Works - FacM&SAna |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Diagnosis_of_Mitochondrial_disorders_by_whole_exome_sequencing.pdf | 1.13 MB | Adobe PDF | View/Open |
Items in OAR@UM are protected by copyright, with all rights reserved, unless otherwise indicated.