Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome
Keywords: چشم انداز فلش پتانسیل را نشان می دهد; GS; Gillespie syndrome; InsP3; Inositol 1,4,5 tri-phosphate receptor; IRBIT; InsP3-binding domain; CARP; Carbonic anhydrase-related protein VIII; SCA; Spinocerebellar ataxia; NPCA; Nonprogressive congenital ataxia; GRM1; Metabotropic glutamate receptor; P