Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). [electronic resource]
Producer: 20050310Description: 274-5 p. digitalISSN:- 1098-1004
- Adolescent
- Aged
- Aged, 80 and over
- Amino Acid Motifs
- Amino Acid Substitution
- Animals
- Binding, Competitive
- Calmodulin -- metabolism
- Cricetinae
- Dinucleotide Repeats
- Dyneins
- Female
- Genes, Dominant
- Hearing Loss -- genetics
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Introns -- genetics
- Male
- Middle Aged
- Models, Biological
- Muscle Tonus
- Muscle, Smooth, Vascular -- metabolism
- Mutation, Missense
- Myosin VIIa
- Myosin-Light-Chain Kinase -- metabolism
- Myosins -- genetics
- Pedigree
- Point Mutation
- Protein Binding
- Recombinant Fusion Proteins -- metabolism
- Transfection
- Vasoconstriction -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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