Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats. [electronic resource]
Producer: 19980423Description: 103-11 p. digitalISSN:- 0022-2593
- Blotting, Southern
- Child, Preschool
- Chorionic Villi -- physiology
- DNA Methylation
- DNA Restriction Enzymes -- chemistry
- Electrophoresis, Agar Gel
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome -- genetics
- Humans
- Immunohistochemistry
- Intellectual Disability -- genetics
- Male
- Middle Aged
- Mosaicism
- Mutation
- Nerve Tissue Proteins -- blood
- Pedigree
- Pregnancy
- Prenatal Diagnosis
- RNA-Binding Proteins -- blood
- Sex Chromosome Aberrations
- Sex Chromosomes
- Trinucleotide Repeats -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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