Mutation in FAM134B causing severe hereditary sensory neuropathy.
Sinéad M
SM
Murphy
Gabrielle L
GL
Davidson
Sebastian
S
Brandner
Henry
H
Houlden
Mary M
MM
Reilly
D002648:Child; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006720:Homozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D009363:Neoplasm Proteins / Q000235:genetics*; D009483:Neuropsychological Tests
D018389:Codon, Nonsense; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D009363:Neoplasm Proteins; C522691:RETREG1 protein, human