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Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
Vissers LE, Bonetti M, Paardekooper Overman J, Nillesen WM, Frints SG, de Ligt J, Zampino G, Justino A, Machado JC, Schepens M, Brunner HG, Veltman JA, Scheffer H, Gros P, Costa JL, Tartaglia M, van der Burgt I, Yntema HG, den Hertog J. Vissers LE, et al. Among authors: gros p. Eur J Hum Genet. 2015 Mar;23(3):317-24. doi: 10.1038/ejhg.2014.115. Epub 2014 Jun 18. Eur J Hum Genet. 2015. PMID: 24939586 Free PMC article.
Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding.
Volokhina E, Westra D, Xue X, Gros P, van de Kar N, van den Heuvel L. Volokhina E, et al. Among authors: gros p. Pediatr Nephrol. 2012 Sep;27(9):1519-24. doi: 10.1007/s00467-012-2183-z. Epub 2012 Jun 6. Pediatr Nephrol. 2012. PMID: 22669319 Free PMC article.
The modular serine proteases of the complement cascade.
Forneris F, Wu J, Gros P. Forneris F, et al. Among authors: gros p. Curr Opin Struct Biol. 2012 Jun;22(3):333-41. doi: 10.1016/j.sbi.2012.04.001. Epub 2012 May 3. Curr Opin Struct Biol. 2012. PMID: 22560446 Review.
780 results