Article
Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA.
Genetics and molecular research : GMR - 31 Jul 2006
Christofolini D M, Lipay M V N, Ramos M A P, Brunoni D, Melaragno M I
Abstract excerpt
Fragile X syndrome is one of the most frequent causes of mental retardation. Since the phenotype in this syndrome is quite variable, clinical diagnosis is not easy and molecular laboratory diagnosis is necessary. Usually DNA from blood cells is used in molecular tests to detect the fragile X mutation which is characterized by an unstable expansion of a CGG repeat in the fragile X mental retardation gene (FMR1)....
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