Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis. [electronic resource]
- Human mutation 2001
- 34-41 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
1098-1004
10.1002/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O doi
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