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pro vyhledávání: '"Argyro Verganelaki"'
Autor:
Frances M. Platt, Michael A. Patton, David A. Priestman, David C. A. Neville, Kay Gurtz, Michael A. Simpson, Harold E. Cross, Raymond A. Dwek, Argyro Verganelaki, Terry D. Butters, Max Wiznitzer, Gabriele Reinkensmeier, Andrew H. Crosby, Christos Proukakis, Heng Wang, Anna Pryde
Publikováno v:
Nature genetics. 36(11)
We identified an autosomal recessive infantile-onset symptomatic epilepsy syndrome associated with developmental stagnation and blindness. Assuming a founder effect in a large Old Order Amish pedigree, we carried out a genome-wide screen for linkage