title: Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification.
authors.forename: M R
authors.initials: MR
authors.lastname: Hegde
authors.forename: B
authors.initials: B
authors.lastname: Chong
authors.forename: M
authors.initials: M
authors.lastname: Fawkner
authors.forename: N
authors.initials: N
authors.lastname: Lambiris
authors.forename: H
authors.initials: H
authors.lastname: Peters
authors.forename: A
authors.initials: A
authors.lastname: Kenneson
authors.forename: S T
authors.initials: ST
authors.lastname: Warren
authors.forename: D R
authors.initials: DR
authors.lastname: Love
authors.forename: J
authors.initials: J
authors.lastname: McGaughran
mesh_terms: D000483:Alleles; D001483:Base Sequence; D015153:Blotting, Western; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics; D017353:Gene Deletion; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009419:Nerve Tissue Proteins / Q000032:analysis / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins; D017384:Sequence Deletion / Q000235:genetics*; D015534:Trans-Activators / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D016601:RNA-Binding Proteins; D015534:Trans-Activators; C099930:AFF2 protein, human; C497683:FMR1 protein, human