Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment

Neurobiology of Disease

Volumn 22, Issue 1, 2006, Pages 112-118

  Palmada, M ^a   Schmalisch, K ^a   Bohmer C ^a   Schug, N ^a   Pfister, M ^a   Lang, F ^a   Blin, N ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

Connexins; Cx26; Functional characterization; Gap junction; GJB2; Mutations; Oocytes; Xenopus laevis

Indexed keywords

CONNEXIN 26; CONNEXIN 30; GAP JUNCTION PROTEIN; PROTEIN GAP JUNCTION BETA 2; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; COCHLEA; CONDUCTANCE; CONTROLLED STUDY; DEPOLARIZATION; GENE MUTATION; GENETIC POLYMORPHISM; HEARING IMPAIRMENT; NONHUMAN; OOCYTE; PHENOTYPE; PRIORITY JOURNAL; WESTERN BLOTTING; XENOPUS;

ANIMALS; CELL MEMBRANE; COCHLEA; CONNEXINS; EPITHELIAL CELLS; FEEDBACK, BIOCHEMICAL; FEMALE; GAP JUNCTIONS; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS, SENSORINEURAL; HUMANS; MEMBRANE POTENTIALS; MUTATION; OOCYTES; PATCH-CLAMP TECHNIQUES; POTASSIUM; PROTEIN STRUCTURE, TERTIARY; XENOPUS LAEVIS;

EID: 33645047652     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nbd.2005.10.005     Document Type: Article

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