Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. [electronic resource]
Producer: 20080416Description: 502-11 p. digitalISSN:- 1098-1004
- Adult
- Alleles
- Amino Acid Sequence
- Animals
- Base Composition
- Chromosomes, Human, Pair 11 -- genetics
- Consanguinity
- DNA, Complementary -- genetics
- Deafness -- genetics
- Dyneins -- chemistry
- Exons
- Female
- Genes, Recessive
- Genetic Linkage
- Green Fluorescent Proteins -- genetics
- Hair Cells, Auditory, Inner -- metabolism
- Humans
- Kinetics
- Male
- Mice
- Middle Aged
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Myosin VIIa
- Myosins -- chemistry
- Pedigree
- Phenotype
- Protein Conformation
- Recombinant Fusion Proteins -- genetics
- Sequence Deletion
- Sequence Homology, Amino Acid
- Transfection
- Usher Syndromes -- genetics
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Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
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