Sinéad M Murphy Gabrielle L Davidson Sebastian Brandner Henry Houlden Mary M Reilly
10.1136/jnnp.2010.228965
J Neurol Neurosurg Psychiatry
2012 Jan;83(1):119-20.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/21115472/
Codon, Nonsense / genetics Hereditary Sensory and Autonomic Neuropathies / genetics Neoplasm Proteins / genetics
Codon, Nonsense / genetics Hereditary Sensory and Autonomic Neuropathies / genetics Neoplasm Proteins / genetics Case Reports Letter Research Support, Non-U.S. Gov't Child Female Hereditary Sensory and Autonomic Neuropathies / pathology Hereditary Sensory and Autonomic Neuropathies / physiopathology Homozygote Humans Intracellular Signaling Peptides and Proteins Membrane Proteins Neuropsychological Tests Codon, Nonsense Intracellular Signaling Peptides and Proteins Membrane Proteins Neoplasm Proteins RETREG1 protein, human
PMC3721196
21115472
Mutation in FAM134B causing severe hereditary sensory neuropathy
2012