Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein

Mutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well as McKusick-Kaufman syndrome, a genetic disorder characterized by congenital heart defects. Congenital heart defects are rare in BBS, and McKu...

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Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: Scott, Charles Anthony, Marsden, Autumn N., Rebagliati, Michael R., Zhang, Qihong, Chamling, Xitiz, Searby, Charles C., Baye, Lisa M., Sheffield, Val C., Slusarski, Diane C.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5550010/
https://ncbi.nlm.nih.gov/pubmed/28753627
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006936
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