Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.
Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, Rouleau GA, Ptacek L, Marchuk DA.
Liquori CL, et al. Among authors: plummer nw.
Am J Hum Genet. 2003 Dec;73(6):1459-64. doi: 10.1086/380314. Epub 2003 Nov 17.
Am J Hum Genet. 2003.
PMID: 14624391
Free PMC article.