Mutations in the nervous system-specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

Journal of Clinical Investigation

Volumn 118, Issue 7, 2008, Pages 2496-2505

  Shekarabi, Masoud ^a   Girard, Nathalie ^a   Rivière, Jean Baptiste ^a   Dion, Patrick ^a   Houle, Martin ^b   Toulouse, André ^a   Lafrenière, Ronald G ^a   Vercauteren, Freya ^a   Hince, Pascale ^a   Laganiere, Janet ^a   Rochefort, Daniel ^a   Faivre, Laurence ^c   Samuels, Mark ^a   Rouleau, Guy A ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c Medical University of Dijon   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; EXON; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENE STRUCTURE; HEREDITARY SENSORY NEUROPATHY TYPE II GENE; HUMAN; IMMUNODETECTION; LYSINE KINASE 1 GENE; MOTONEURON; MOUSE; NEUROPATHY; NONHUMAN; PERIPHERAL NERVOUS SYSTEM; PRIORITY JOURNAL; PSEUDOHYPOALDOSTERONISM; SATELLITE CELL; SCHWANN CELL; SENSORY NERVE CELL;

ADOLESCENT; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANIMALS; AXONS; CENTRAL NERVOUS SYSTEM; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; GANGLIA, SPINAL; GENE EXPRESSION; HETEROZYGOTE; HUMANS; MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; NEUROGLIA; NEURONS; PERIPHERAL NERVOUS SYSTEM; PROTEIN ISOFORMS; PROTEIN-SERINE-THREONINE KINASES; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; SPINAL NERVE ROOTS;

EID: 46749127782     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JC134088     Document Type: Article

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