PMC Links for Protein (Select 58865946) - PMC - NCBI

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Select item 50054681.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Andrea Angius, Paolo Uva, Insa Buers, Manuela Oppo, Alessandro Puddu, Stefano Onano, Ivana Persico, Angela Loi, Loredana Marcia, Wolfgang Höhne, Gianmauro Cuccuru, Giorgio Fotia, Manila Deiana, Mara Marongiu, Hatice Tuba Atalay, Sibel Inan, Osama El Assy, Leo M.E. Smit, Ilyas Okur, Koray Boduroglu, Gülen Eda Utine, Esra Kılıç, Giuseppe Zampino, Giangiorgio Crisponi, Laura Crisponi, Frank Rutsch

Am J Hum Genet. 2016 Jul 7; 99(1): 236–245. Published online 2016 Jul 7. doi: 10.1016/j.ajhg.2016.05.026

Correction in:: Am J Hum Genet. 2018 Apr 5; 102(4): 713.

PMCID:: PMC5005468

Abstract Article PDF–2.0M

Select item 31909392.

Ubiquitin Ligase Activity of Cul3-KLHL7 Protein Is Attenuated by Autosomal Dominant Retinitis Pigmentosa Causative Mutation

Yu Kigoshi, Fuminori Tsuruta, Tomoki Chiba

J Biol Chem. 2011 Sep 23; 286(38): 33613–33621. Published online 2011 Aug 2. doi: 10.1074/jbc.M111.245126

PMCID:: PMC3190939

Abstract Article PDF–2.1M

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