Title : A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).

Pub. Date : 2012 Jan

PMID : 22009580






1 Functional Relationships(s)
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1 Genotyping analysis indicated that this mutation arose on three distinct haplotypes, and the results of bisulfite sequencing suggested that methylation-mediated deamination of a CpG dinucleotide gives rise to the recurrent p.Arg329His AARS mutation. hydrogen sulfite alanyl-tRNA synthetase 1 Homo sapiens