Human CLP1 mutations alter tRNA biogenesis affecting both peripheral and central nervous system function
Homo sapiens
4 Downloadable Samples
Illumina HiSeq 2500
Submitter Supplied Information
Description
We elucidate a neurological syndrome affecting both the PNS and CNS defined by CLP1 mutations that impair tRNA splicing Overall design: Identification and biochemical characterization of mutant CLP1 in human patients