PMC Links for Protein (Select 345498499) - PMC

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Items: 3

Select item 59250051.

Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency

Laura Gámez-Díaz, Elena C. Sigmund, Veronika Reiser, Werner Vach, Sophie Jung, Bodo Grimbacher

Front Immunol. 2018; 9: 720. Published online 2018 Apr 23. doi: 10.3389/fimmu.2018.00720

PMCID:: PMC5925005

Abstract Article PDF–1.2M

Select item 56666172.

The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing

Christian Vogl, Tanvi Butola, Natja Haag, Torben J Hausrat, Michael G Leitner, Michel Moutschen, Philippe P Lefèbvre, Carsten Speckmann, Lillian Garrett, Lore Becker, Helmut Fuchs, Martin Hrabe de Angelis, Sandor Nietzsche, Michael M Kessels, Dominik Oliver, Matthias Kneussel, Manfred W Kilimann, Nicola Strenzke

EMBO Rep. 2017 Nov; 18(11): 2015–2029. Published online 2017 Sep 11. doi: 10.15252/embr.201643689

PMCID:: PMC5666617

Abstract Article PDF–7.3M

Select item 33702803.

Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity

Gabriela Lopez-Herrera, Giacomo Tampella, Qiang Pan-Hammarström, Peer Herholz, Claudia M. Trujillo-Vargas, Kanchan Phadwal, Anna Katharina Simon, Michel Moutschen, Amos Etzioni, Adi Mory, Izhak Srugo, Doron Melamed, Kjell Hultenby, Chonghai Liu, Manuela Baronio, Massimiliano Vitali, Pierre Philippet, Vinciane Dideberg, Asghar Aghamohammadi, Nima Rezaei, Victoria Enright, Likun Du, Ulrich Salzer, Hermann Eibel, Dietmar Pfeifer, Hendrik Veelken, Hans Stauss, Vassilios Lougaris, Alessandro Plebani, E. Michael Gertz, Alejandro A. Schäffer, Lennart Hammarström, Bodo Grimbacher

Am J Hum Genet. 2012 Jun 8; 90(6): 986–1001. doi: 10.1016/j.ajhg.2012.04.015