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Paper Details

A Novel Missense Mutation in <i>ERCC8</i> Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.
Cells
1
2022
ARCA, ARCAs, Autosomal-recessive cerebellar ataxias, CSA, Cerebellar Ataxia, Cerebellar atrophy, Cockayne Syndrome type A, ERCC8, M59T, UV light-sensitive syndrome, WD1 beta, WD1 beta-transducin repeat motif, body imbalance, c., children, cultured cells, dysarthria, gait ataxia, movement disorders, nucleotide, nucleotide excision repair complex, p, rare disorders, wildtype ERCC8 protein
Author NameAffiliation
Richard P LiftonYale School of Medicine
Richard P LiftonRockefeller University
Richard P LiftonYale School of Medicine
Richard P LiftonRockefeller University
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Release 1.2