Article
Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families.
Human genetics - 1 Nov 1993
Steinbach P, Wöhrle D, Tariverdian G, Kennerknecht I, Barbi G, Edlinger H, Enders H, Götz-Sothmann M, Heilbronner H, Hosenfeld D
Abstract excerpt
Molecular genetic analysis of the transmission of mutations in 73 families with fragile X (one of the largest samples evaluated so far) has confirmed previous hypotheses that the fragile X syndrome results from two consecutive mutational steps, designated "premutation" and "full fragile X mutation". These mutations give rise to expansions of restriction fragments, most probably by amplification of the FMR-1 CGG...
Topics
- Alternative Splicing
- DNA
- DNA Mutational Analysis
- Embryonic and Fetal Development
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Gene Conversion
- Gene Expression Regulation
- Genes, Recessive