Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families. [electronic resource]
Producer: 19940105Description: 491-8 p. digitalISSN:- 0340-6717
- Alternative Splicing
- DNA -- metabolism
- DNA Mutational Analysis
- Embryonic and Fetal Development
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome -- genetics
- Gene Conversion
- Gene Expression Regulation
- Genes, Recessive
- Heterozygote
- Humans
- Male
- Methylation
- Mosaicism
- Mothers
- Mutagenesis
- Mutation -- genetics
- Nerve Tissue Proteins -- genetics
- Pedigree
- Phenotype
- Polymorphism, Restriction Fragment Length
- RNA-Binding Proteins
- Repetitive Sequences, Nucleic Acid
- Restriction Mapping
- Zygote
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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