METHOD FOR DETECTING OR DIAGNOSING GENETIC MUTATION CAUSING COSTELLO SYNDROME

摘要

PPROBLEM TO BE SOLVED: To find out a genetic mutation causing Costello syndrome and to provide a method, etc., for diagnosis based thereon. PSOLUTION: A polynucleotide or an oligonucleotide contains at least one of the following mutations: (a) the thirty-fourth g substituted with a, (b) the thirty-fifth g substituted with c, (c) the thirty-fifth g substituted with t and the thirty-sixth c substituted with t and (d) the thirty-eighth g substituted with a. PCOPYRIGHT: (C)2007,JPO&INPIT