Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 83, Issue 12, 2012, Pages 1204-1209

  Fawcett, Katherine A ^a   Murphy, Sinead M ^a,b   Polke, James M ^a   Wray, Selina ^a   Burchell, Victoria S ^a   Manji, Hadi ^a   Quinlivan, Ros M ^a   Zdebik, Anselm A ^c   Reilly, Mary M ^a   Houlden, Henry ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b ADELAIDE AND MEATH HOSPITAL   (Ireland)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; VANILLOID RECEPTOR 4;

ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; LYMPHOBLAST; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEUROPATHY; NONSENSE MUTATION; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; TRPV4 GENE; WESTERN BLOTTING;

ADULT; AGED; BLOTTING, WESTERN; CELLS, CULTURED; CHARCOT-MARIE-TOOTH DISEASE; CODON, NONSENSE; COHORT STUDIES; EXONS; FEMALE; GENETIC VARIATION; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; PROTEIN ISOFORMS; TRPV CATION CHANNELS;

EID: 84869239787     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2012-303055     Document Type: Article

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