PMC Links for Nucleotide (Select 1779421248) - PMC - NCBI

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Items: 3

Select item 39663001.

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

Sophie Scheidecker, Christelle Etard, Nathan W Pierce, Véronique Geoffroy, Elise Schaefer, Jean Muller, Kirsley Chennen, Elisabeth Flori, Valérie Pelletier, Olivier Poch, Vincent Marion, Corinne Stoetzel, Uwe Strähle, Maxence V Nachury, Hélène Dollfus

J Med Genet. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: J Med Genet. 2014 Feb; 51(2): 132–136. Published online 2013 Sep 11. doi: 10.1136/jmedgenet-2013-101785

PMCID:: PMC3966300

Abstract Article PDF–1.1M

Select item 33702462.

Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome

Qihong Zhang, Dahai Yu, Seongjin Seo, Edwin M. Stone, Val C. Sheffield

J Biol Chem. 2012 Jun 8; 287(24): 20625–20635. Published online 2012 Apr 12. doi: 10.1074/jbc.M112.341487

PMCID:: PMC3370246

Abstract Article PDF–2.3M

Select item 28987353.

The conserved Bardet-Biedl Syndrome proteins assemble a coat that traffics membrane proteins to cilia

Hua Jin, Susan Roehl White, Toshinobu Shida, Stefan Schulz, Mike Aguiar, Steven P. Gygi, J. Fernando Bazan, Maxence V. Nachury

Cell. Author manuscript; available in PMC 2011 Jun 25.

Published in final edited form as: Cell. 2010 Jun 25; 141(7): 1208–1219. doi: 10.1016/j.cell.2010.05.015

PMCID:: PMC2898735

Abstract Article PDF–2.1M

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