A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion. [electronic resource]
Producer: 19961015Description: 419-21 p. digitalISSN:- 0340-6717
- Adult
- Atlantic Islands
- Chromosome Mapping
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome -- genetics
- Genetic Carrier Screening
- Humans
- Intellectual Disability -- genetics
- Male
- Methylation
- Mutation
- Nerve Tissue Proteins -- genetics
- Pedigree
- RNA-Binding Proteins -- genetics
- Reference Values
- Trinucleotide Repeats
- X Chromosome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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