- The impact of CFNS-causing EFNB1 mutations on ephrin-B1 functionRoman Makarov
Institut fur Humangenetik, Universitatsklinikum, Otto von Guericke Universitat, Magdeburg, Germany
BMC Med Genet 11:98. 2010..406 + 2T > C and two missense mutations p.P54L and p.T111I. Both missense mutations are located in the extracellular ephrin domain involved in Eph-ephrin-B1 recognition and higher order complex formation...