First Portuguese patient presenting with hereditary sensory and autonomic neuropathy type 1E associated with a novel mutation in DNMT1 gene.

Pedro CoelhoMiguel Oliveira Santos

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2019)

Keyphrases

case report
dna methylation
genome wide
heart rate variability
copy number
heart rate
genome wide identification
blood pressure
genome wide analysis
transcription factor