Okulokutaner Albinismus (OCA)

Organsysteme
- Gefäß-/ Bindegewebs- und Skeletterkrankungen
Diagnostik
- Okulokutaner Albinismus (OCA) Panel
Gene
- AP3B1 ,
- AP3D1 ,
- APBA2 ,
- ATP10A ,
- BLOC1S3 ,
- BLOC1S5 ,
- BLOC1S6 ,
- CHRNA7 ,
- DCT ,
- DTNBP1 ,
- GABRB3 ,
- GPR143 ,
- HPS1 ,
- HPS3 ,
- HPS4 ,
- HPS5 ,
- HPS6 ,
- LRMDA ,
- LYST ,
- MC1R ,
- MLPH ,
- MYO5A ,
- OCA2 ,
- RAB27A ,
- SGMS2 ,
- SHANK3 ,
- SLC24A5 ,
- SLC45A2 ,
- TJP2 ,
- TRPM1 ,
- TYR ,
- TYRP1 ,
- UBE3A