2E4/Kaptin (KPTN) – a candidate gene for the hearing loss locus, DFNA4

Stereocilia of the inner ear play an integral role in the mechanotransduction of sound. Their structural support is derived from actin filaments and actin-binding proteins. We have identified a novel actin-binding protein, 2E4-kaptin (KPTN), which appears to be involved in this structural network. U...

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Veröffentlicht in:	Annals of human genetics 2000-05, Vol.64 (3), p.189-196
Hauptverfasser:	BEARER, E. L., CHEN, A. F., CHEN, A. H., LI, Z., MARK, H.-F., SMITH, R. J. H., JACKSON, C. L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Animals Biological and medical sciences Chickens Chromosome Mapping Chromosomes, Human, Pair 19 - genetics Deafness - genetics Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology Female Humans In Situ Hybridization, Fluorescence Male Medical sciences Mice Microfilament Proteins - genetics Microscopy, Fluorescence Molecular Sequence Data Non tumoral diseases Otorhinolaryngology. Stomatology Pedigree Polymerase Chain Reaction
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