Detection of FMR1 trinucleotide repeat expansion mutations using Southern blot and PCR methodologies.
Tarleton
Jack
J
Fullerton Genetics Center, Asheville, NC, USA.
D015139:Blotting, Southern / Q000379:methods; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D005091:Exons; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D016601:RNA-Binding Proteins; D018570:Risk Assessment; D012727:Sex Characteristics; D019680:Trinucleotide Repeat Expansion
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human