Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Molecular Medicine
Link
http://www.nature.com/articles/s41434-021-00241-1.pdf
Reference35 articles.
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4. Schaefer E, Delvalee C, Mary L, Stoetzel C, Geoffroy V, Marks-Delesalle C, et al. Identification and characterization of known biallelic mutations in the IFT27 (BBS19) gene in a novel family with Bardet-Biedl syndrome. Front Genet. 2019;10:1–6.
5. Davis R, Swiderski R, Rahmouni K, Nishimura D, Mullins R, Agassandian K, et al. A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. PNAS. 2007;4:19422–7.
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