Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations

PLoS ONE

Volumn 6, Issue 5, 2011, Pages

  Loukin, Stephen ^a   Su, Zhenwei ^a   Kung, Ching ^a  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

VANILLOID RECEPTOR 4; TRPV4 PROTEIN, HUMAN; VANILLOID RECEPTOR;

ALLELE; ARTICLE; BIOLOGICAL ACTIVITY; BONE DYSPLASIA; CHANNEL GATING; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GAIN OF FUNCTION MUTATION; GENE ACTIVITY; GENE EXPRESSION; GENE FUNCTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; OOCYTE; PHENOTYPE; XENOPUS; ANIMAL; CHONDRODYSPLASIA; GENETICS; METABOLISM; PATCH CLAMP; PATHOLOGY; XENOPUS LAEVIS;

ANIMALS; HUMANS; OOCYTES; OSTEOCHONDRODYSPLASIAS; PATCH-CLAMP TECHNIQUES; TRPV CATION CHANNELS; XENOPUS LAEVIS;

EID: 79955790491     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0019533     Document Type: Article

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