A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family.
Rivière
Jean-Baptiste
JB
Centre for Research in Neurosciences and Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
Verlaan
Dominique J
DJ
Shekarabi
Masoud
M
Lafrenière
Ronald G
RG
Bénard
Mélanie
M
Der Kaloustian
Vazken M
VM
Shbaklo
Zuhayr
Z
Rouleau
Guy A
GA
D000328:Adult; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D008040:Genetic Linkage; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins; D007861:Lebanon / Q000208:ethnology; D008297:Male; D015778:Minor Histocompatibility Antigens; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases; D000076204:WNK Lysine-Deficient Protein Kinase 1
D047908:Intracellular Signaling Peptides and Proteins; D015778:Minor Histocompatibility Antigens; D009419:Nerve Tissue Proteins; D017346:Protein Serine-Threonine Kinases; D000076204:WNK Lysine-Deficient Protein Kinase 1; C498743:WNK1 protein, human; D003545:Cysteine