Vybraná monogenně podmíněná endokrinní onemocnění v dětském věku: patofyziologické souvislosti
Monogenic conditions are based on a single gene mutation and therefore a "rare" allele formation. Such a mutation leads to a phenotypic abnormity with autosomal dominant, autosomal recessive, or gonosmal mode of inheritance. According to mutation severity, monogenic disorders manifest eith...
| Main Author: | |
|---|---|
| Other Authors: | |
| Format: | Doctoral Thesis |
| Language: | Czech |
| Published: |
2014
|
| Online Access: | http://www.nusl.cz/ntk/nusl-327228 |