TY  - GEN
AU  - Murphy,Sinéad M
AU  - Davidson,Gabrielle L
AU  - Brandner,Sebastian
AU  - Houlden,Henry
AU  - Reilly,Mary M
TI  - Mutation in FAM134B causing severe hereditary sensory neuropathy
SN  - 1468-330X
PY  - 2012///0202
KW  - Child
KW  - Codon, Nonsense
KW  - genetics
KW  - Female
KW  - Hereditary Sensory and Autonomic Neuropathies
KW  - Homozygote
KW  - Humans
KW  - Intracellular Signaling Peptides and Proteins
KW  - Membrane Proteins
KW  - Neoplasm Proteins
KW  - Neuropsychological Tests
N1  - Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jnnp.2010.228965
ER  -