DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene - van den Ouweland, A M; de Vries, B B; Bakker, P L; Deelen, W H; de Graaff, E; van Hemel, J O; Oostra, B A; Niermeijer, M F; Halley, D J (American journal of medical genetics, 1994)
Keywords: Blotting, Southern; Child, Preschool; Chromosome Aberrations; Cloning, Molecular; Dinucleoside Phosphates - metabolism; DNA Mutational Analysis; DNA Probes; Female; Fragile X Syndrome - diagnosis; Fragile X Syndrome - genetics; Gene Dosage; Humans; Intellectual Disability - genetics; Male; Methylation; Polymerase Chain Reaction; Repetitive Sequences, Nucleic Acid; Suppression, Genetic