References of "Avraham, Karen B."
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See detailBeethoven, a mouse model for dominant, progressive hearing loss DFNA36.
Vreugde, Sarah; Erven, Alexandra; Kros, Corne J. et al

in Nature Genetics (2002), 30(3), 257-8

Despite recent progress in identifying genes underlying deafness, there are still relatively few mouse models of specific forms of human deafness. Here we describe the phenotype of the Beethoven (Bth ... [more ▼]

Despite recent progress in identifying genes underlying deafness, there are still relatively few mouse models of specific forms of human deafness. Here we describe the phenotype of the Beethoven (Bth) mouse mutant and a missense mutation in Tmc1 (transmembrane cochlear-expressed gene 1). Progressive hearing loss (DFNA36) and profound congenital deafness (DFNB7/B11) are caused by dominant and recessive mutations of the human ortholog, TMC1 (ref. 1), for which Bth and deafness (dn) are mouse models, respectively. [less ▲]

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