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Article

Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region.

Human mutation - 1 Jan 2006

Yonezawa Satoshi, Yoshizaki Norio, Kageyama Takashi, Takahashi Takayuki, Sano Mamoru, Tokita Yoshihito, Masaki Shigeo, Inaguma Yutaka, Hanai Atsuko, Sakurai Nobuhiko, Yoshiki Atsushi, Kusakabe Moriaki, Moriyama Akihiko, Nakayama Atsuo

Abstract excerpt

BUS/Idr mice carrying a mutant waltzer allele (vbus) are characterized by splayed hair bundles in inner ear sensory cells, providing a mouse homolog of USH1D/DFNB12. RT-PCR-based screening for the presence of mutations in mouse Cdh23, the gene responsible for the waltzer phenotype, has identified a G>A mutation in the donor splice site of intron 67 (Cdh23:c.9633+1G>A: GenBank AF308939.1), indicating that two...

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Source

Identifiers

PMID: 16281288
DOI: 10.1002/humu.20266

Genes

CDH23

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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