Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis. [electronic resource]
Producer: 20010222Description: 34-41 p. digitalISSN:- 1098-1004
- Abnormalities, Multiple -- genetics
- Adaptor Proteins, Signal Transducing
- Alternative Splicing -- genetics
- Amino Acid Substitution -- genetics
- Carrier Proteins -- genetics
- Cell Cycle Proteins
- Child
- Codon, Nonsense -- genetics
- Cytoskeletal Proteins
- DNA Mutational Analysis
- Deafness -- congenital
- Female
- Genetic Carrier Screening
- Haplotypes -- genetics
- Humans
- Male
- Mutation
- Mutation, Missense -- genetics
- Polymorphism, Genetic -- genetics
- Retinitis Pigmentosa -- congenital
- Syndrome
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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