A novel missense mutation in ercc8 co-segregates with cerebellar ataxia in a consanguineous pakistani family

HIGHLIGHTS

• who: Zeeshan Gauhar and colleagues from the University Institute of Biochemistry and Biotechnology (UIBB), Pir Mehr Ali Shah Arid Agriculture Interdepartmental Neuroscience Program, Yale School of Medicine, New Haven, CT, USA have published the Article: A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family, in the Journal: Cells 2022, 11, 3090 GEMIN of /2022/
• future: Although these experiments suggest that p.M59T mutation results in a loss of ERCC8 function further biochemical studies with larger sample sizes that discriminate between endogenous WT and exogenous WT and mutant ERCC8 . . .
  

   

  

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