TRPV4-pathy, a novel channelopathy affecting diverse systems

Journal of Human Genetics

Volumn 55, Issue 7, 2010, Pages 400-402

  Dai, Jin ^a,b   Cho, Tae Joon ^c   Unger, Sheila ^d   Lausch, Ekkehart ^d   Nishimura, Gen ^e   Kim, Ok Hwa ^f   Superti Furga, Andrea ^d   Ikegawa, Shiro ^a  

^a RIKEN   (Japan)

^b NANJING UNIVERSITY   (China)

^c Seoul National University Children's Hospital   (South Korea)

^d UNIVERSITY OF FREIBURG   (Germany)

^e TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^f Ajou University Medical Center   (South Korea)

Author keywords

mutation; neuropathy; skeletal dysplasia; TRPV4; TRPV4 pathy

Indexed keywords

ARGININE; CYSTEINE; HISTIDINE; VANILLOID RECEPTOR 1; VANILLOID RECEPTOR 2; VANILLOID RECEPTOR 4;

BONE DYSPLASIA; CHANNELOPATHY; CHRONIC OBSTRUCTIVE LUNG DISEASE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; NEUROPATHY; REVIEW; SODIUM BLOOD LEVEL; SPINAL MUSCULAR ATROPHY; SPONDYLOEPIPHYSEAL DYSPLASIA; SPONDYLOMETAPHYSEAL DYSPLASIA;

CHANNELOPATHIES; DISEASE; HUMANS; MUTATION; PHENOTYPE; PROTEIN BINDING; TRPV CATION CHANNELS;

EID: 77955006540     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.37     Document Type: Review

References (13)

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