Quantitative analysis of disease associated mutations and sequence variants
A solid-phase sequencing technique was applied to quantify the mitochondrial A3243G mutation in three families with maternally inherited diabetes and deafness. A correlation between the level of heteroplasmy and age at onset was found. The fluctuation of the heteroplasmy levels of the A3243G mutatio...
| Main Author: | |
|---|---|
| Format: | Doctoral Thesis |
| Language: | English |
| Published: |
Uppsala universitet, Institutionen för genetik och patologi
2001
|
| Subjects: | |
| Online Access: | http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-658 http://nbn-resolving.de/urn:isbn:91-554-5018-0 |