References
- Berndt MC, Andrews RK. Bernard-Soulier syndrome. Haematologica 2011;96:355–359.
- Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, et al. Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat 2014;35:1033–1045.
- http://www.ngrl.org.uk/Manchester/page/align-gvgd. Last accessed July 21, 2017.
- http://provean.jcvi.org/about.php. Last accessed july 21, 2017.
- http://www.mutationtaster.org/. Last accessed july 21, 2017.
- Aken BL, Achuthan P, Akanni W, Amode MR, Bernsdorff F, Bhai J, Billis K, Carvalho-Silva D, Cummins C, Clapham P, et al. Ensembl. Nucleic Acids Res 2017;4(45):D635–D642.
- McEwan PA, Yang W, Carr KH, Mo X, Zheng X, Li R, Emsley J. Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimera. Blood 2011;118:5292–5301.
- Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O’Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 2016;536:285–291.
- Rivera CE, Villagra J, Riordan M, Williams S, Lindstrom KJ, Rick ME. Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. Br J Haematol 2001;112:105–108.