A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome
By: M Bakšienė, E Benušienė, A Morkūnienė, L Ambrozaitytė, A Utkus and V Kučinskas
Authors
M Bakšienė
Center for Medical Genetics, Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania
Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania
E Benušienė
Center for Medical Genetics, Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania
Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania
A Morkūnienė
Center for Medical Genetics, Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania
Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania
L Ambrozaitytė
Center for Medical Genetics, Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania
Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania
A Utkus
Center for Medical Genetics, Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania
Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania
V Kučinskas
Center for Medical Genetics, Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania
Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania
DOI: https://doi.org/10.1515/bjmg-2016-0043 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
Language: English
Page range: 95 - 100
Published on: Dec 31, 2016
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Keywords:
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© 2016 M Bakšienė, E Benušienė, A Morkūnienė, L Ambrozaitytė, A Utkus, V Kučinskas, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.