Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID).

Julia MetzgerAnna NolteAnn-Kathrin UhdeMarion Hewicker-TrautweinOttmar Distl

Published in: BMC genomics (2017)

The results of this study give strong evidence for a variant in MTBP related with proinflammatory processes via MTBP-MDM2 pathway. Thus, these results enable a reliable detection of SPAID in Shar-Pei dogs.

Keyphrases

genome wide
intellectual disability
loop mediated isothermal amplification
real time pcr
drug induced