Article
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).
Proceedings of the National Academy of Sciences of the United States of America - 18 Apr 2006
Chiang Annie P, Beck John S, Yen Hsan-Jan, Tayeh Marwan K, Scheetz Todd E, Swiderski Ruth E, Nishimura Darryl Y, Braun Terry A, Kim Kwang-Youn A, Huang Jian, Elbedour Khalil, Carmi Rivka, Slusarski Diane C, Casavant Thomas L, Stone Edwin M, Sheffield Val C
Abstract excerpt
The identification of mutations in genes that cause human diseases has largely been accomplished through the use of positional cloning, which relies on linkage mapping. In studies of rare diseases, the resolution of linkage mapping is limited by the number of available meioses and informative marker density. One recent advance is the development of high-density SNP microarrays for genotyping. The SNP arrays...
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