Direct analysis of the FMR-1 gene provides an explanation for an exceptional case of a fragile X negative, mentally retarded male in a fragile X family.
Tarleton
J
J
Molecular Genetics, Greenwood Genetic Center, SC 29646.
Wong
S
S
Schwartz
C
C
D002873:Chromosome Fragility; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D004262:DNA Restriction Enzymes; D005192:Family Health; D005600:Fragile X Syndrome / Q000235:genetics*; D005784:Gene Amplification; D014644:Genetic Variation; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009030:Mosaicism; D009154:Mutation; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid
D004247:DNA; D004262:DNA Restriction Enzymes