Sentences with phrase «novo nonsense mutations»

Not exact matches

RESULTS: Here we report the identification of a de novo nonsense truncating mutation in one patient with SCZ, in kinesin 17, a synaptic motor protein.

Both sisters appeared to share a de novo (i.e. newly arisen) nonsense mutation in a gene called Additional Sex Combs Like 3 (ASXL3).

The four unrelated patients in the Bainbridge study had de novo nonsense and frameshift mutations in ASXL3 (not ASXL1).