Klinisch | Untersuchungsmethoden | Familienuntersuchung |
Bearbeitungszeit | 5 Tage | |
Probentyp | genomische DNS |
Klinisch | Untersuchungsmethoden | Hochdurchsatz-Sequenzierung |
Bearbeitungszeit | 25 Tage | |
Probentyp | genomische DNS |
Forschung | Untersuchungsmethoden | Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens |
Bearbeitungszeit | 25 Tage | |
Probentyp | genomische DNS |
![]() |
||||
![]() |
![]() ![]() |
|||
![]() |
![]() ![]() |
|||
![]() |
![]() ![]() |
|||
![]() |
![]() ![]() |
|||
![]() |
![]() ![]() |
|||
![]() |
![]() |
|||
![]() |
![]() |
![]() ![]() |
||
![]() |
![]() ![]() |
|||
![]() |
![]() ![]() |
|||
![]() |
![]() ![]() |
|||
![]() |
![]() ![]() |
|||
![]() |
![]() ![]() |
|||
![]() |
![]() ![]() |
|||
![]() |
![]() ![]() |
|||
![]() |
![]() |
![]() |
![]() |
![]() |
1. |
Schekman R et al. (1996) Coat proteins and vesicle budding. ![]() |
2. |
Aguglia U et al. (2000) Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome. ![]() |
3. |
Takai Y et al. (2001) Small GTP-binding proteins. ![]() |
4. |
He H et al. (2002) Identification and characterization of nine novel human small GTPases showing variable expressions in liver cancer tissues. ![]() |
5. |
Jones B et al. (2003) Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. ![]() |
6. |
Annesi G et al. (2007) SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. ![]() |
7. |
Charcosset M et al. (2008) Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein. ![]() |