Capo-Chichi et al., 2015
- Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
Journal of Medical Genetics
52(5):303-11
Full text @ J. Med. Genet.
Marker Type | Symbol | Name |
---|---|---|
Gene | clpb | ClpB family mitochondrial disaggregase |
Gene | madd | MAP-kinase activating death domain |
Gene | myo7aa | myosin VIIAa |
Gene | tpcn2 | two pore segment channel 2 |