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Publikováno v:
Mammalian Genome. Sep2008, Vol. 19 Issue 9, p634-639. 6p. 2 Charts, 2 Graphs.
Publikováno v:
Mammalian Genome. 19:634-639
Mice homozygous for the hypomorphic allele Eya1 bor exhibit cochlear aplasia, with associated deafness, and renal hypoplasia, similar to Branchio-Oto-Renal syndrome (BOR) in humans. Although much is known about the genetics of the disease, little is
Publikováno v:
Otolaryngology–Head and Neck Surgery. 129
Publikováno v:
Genomics. (3):302-308
The Eya1 bor mutant hypomorph contains an intracisternal A particle insertion in intron 7 of the Eya1 gene that results in a 50% reduction in wild-type mRNA levels. The homozygous mutants have middle and inner ear defects and variable kidney abnormal