Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

Bras J, Alonso I, Barbot C, Costa MM, Darwent L, Orme T, Sequeiros J, Hardy J, Coutinho P, Guerreiro R. Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4. Am J Hum Genet. 2015 Mar 5;96(3):474-9.

PubMed ID: 
25728773