A knockin mouse model of the Bardet–Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder that results in retinal degeneration, obesity, cognitive impairment, polydactyly, renal abnormalities, and hypogenitalism. Of the 12 known BBS genes, BBS1 is the most commonly mutated, and a single missense mutation (M390R) accounts...

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Detalhes bibliográficos
Main Authors: Davis, Roger E., Swiderski, Ruth E., Rahmouni, Kamal, Nishimura, Darryl Y., Mullins, Robert F., Agassandian, Khristofor, Philp, Alisdair R., Searby, Charles C., Andrews, Michael P., Thompson, Stewart, Berry, Christopher J., Thedens, Daniel R., Yang, Baoli, Weiss, Robert M., Cassell, Martin D., Stone, Edwin M., Sheffield, Val C.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2007
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2148305/
https://ncbi.nlm.nih.gov/pubmed/18032602
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0708571104
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