[Mutations in the HSN2 exon of WNK1 cause hereditary sensory neuropathy type II].
Rivière
Jean-Baptiste
JB
Dion
Patrick
P
Shekarabi
Masoud
M
Girard
Nathalie
N
Faivre
Laurence
L
Lafrenière
Ronald G
RG
Samuels
Mark
M
Rouleau
Guy A
GA
D017931:DNA Primers; D005091:Exons / Q000235:genetics*; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D015778:Minor Histocompatibility Antigens; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D000076204:WNK Lysine-Deficient Protein Kinase 1
D017931:DNA Primers; 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