Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.

Zwaenepoel, I

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