Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome

Bardet-Biedl syndrome is a genetically and clinically heterogeneous disorder caused by mutations in at least seven loci (BBS1–7), five of which are cloned (BBS1, BBS2, BBS4, BBS6, and BBS7). Genetic and mutational analyses have indicated that, in some families, a combination of three mutant alleles...

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Huvudupphovsmän: Beales, Philip L., Badano, Jose L., Ross, Alison J., Ansley, Stephen J., Hoskins, Bethan E., Kirsten, Brigitta, Mein, Charles A., Froguel, Philippe, Scambler, Peter J., Lewis, Richard Alan, Lupski, James R., Katsanis, Nicholas
Materialtyp: Artigo
Språk:Inglês
Publicerad: The American Society of Human Genetics 2003
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Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180271/
https://ncbi.nlm.nih.gov/pubmed/12677556
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