Please use this identifier to cite or link to this item:
Title: Diagnosis of mitochondrial disorders by whole exome sequencing
Authors: Vella, Joanna
Laurie, S.
Borg, Joseph J.
Soler, Doriette
Vella, Norbert
Aquilina, Josanne
Said, Edith
Borg, Isabella
Felice, Alex E.
Keywords: Mitochondrial DNA
Gene mapping -- Malta
Genomics -- Malta
Human genome
Issue Date: 2018
Citation: Vella, J., Laurie, S., Borg, J.J., Soler, D., Vella, N., Aquilina, J…. Felice,A.E. (2018). Diagnosis of mitochondrial disorders by whole exome sequencing. European Human Genetics Conference in conjunction with the European Meeting on Psychosocial AspectsEuropean Human Genetics Conference in Conjunction with the European Meeting on Psychosocial Aspects of Genetics, Milan.
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.
Appears in Collections:Scholarly Works - FacHScABS

Files in This Item:
File Description SizeFormat 
Diagnosis_of_Mitochondrial_disorders_by_whole_exome_sequencing.pdf1.13 MBAdobe PDFView/Open

Items in OAR@UM are protected by copyright, with all rights reserved, unless otherwise indicated.