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Items: 4

1.
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I
Christian Babbs, Nigel A. Roberts, Luis Sanchez-Pulido, Simon J. McGowan, Momin R. Ahmed, Jill M. Brown, Mohamed A. Sabry, WGS500 Consortium, David R. Bentley, Gil A. McVean, Peter Donnelly, Opher Gileadi, Chris P. Ponting, Douglas R. Higgs, Veronica J. Buckle
Haematologica. 2013 Sep; 98(9): 1383–1387. doi: 10.3324/haematol.2013.089490
PMCID:
PMC3762094
AbstractArticlePDF–343K
2.
Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply
Katrine Ask, Zuzana Jasencakova, Patrice Menard, Yunpeng Feng, Geneviève Almouzni, Anja Groth
EMBO J. 2012 Apr 18; 31(8): 2013–2023. Published online 2012 Mar 9. doi: 10.1038/emboj.2012.55
Correction in:
EMBO J. 2012 Jul 18; 31(14): 3229.
PMCID:
PMC3343338
AbstractArticlePDF–1.2M
3.
Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1
Orly Dgany, Nili Avidan, Jean Delaunay, Tatyana Krasnov, Lea Shalmon, Hanna Shalev, Tal Eidelitz-Markus, Joseph Kapelushnik, Daniel Cattan, Alexandre Pariente, Michel Tulliez, Aurore Crétien, Pierre-Olivier Schischmanoff, Achille Iolascon, Eithan Fibach, Ariel Koren, Jochen Rössler, Martine Le Merrer, Isaac Yaniv, Rina Zaizov, Edna Ben-Asher, Tsvyia Olender, Doron Lancet, Jacques S. Beckmann, Hannah Tamary
Am J Hum Genet. 2002 Dec; 71(6): 1467–1474. Published online 2002 Nov 14. doi: 10.1086/344781
PMCID:
PMC378595
AbstractArticlePDF–1.0M
4.
RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population
Sirui Zhou, Amirthagowri Ambalavanan, Daniel Rochefort, Pingxing Xie, Cynthia V. Bourassa, Pascale Hince, Alexandre Dionne-Laporte, Dan Spiegelman, Ziv Gan-Or, Cathy Mirarchi, Vessela Zaharieva, Nicolas Dupré, Hatasu Kobayashi, Toshiaki Hitomi, Kouji Harada, Akio Koizumi, Lan Xiong, Patrick A. Dion, Guy A. Rouleau
Am J Hum Genet. 2016 Nov 3; 99(5): 1072–1085. Published online 2016 Oct 13. doi: 10.1016/j.ajhg.2016.09.001
PMCID:
PMC5097946
AbstractArticlePDF–1.1M

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