Three females were identified who have apparent reversal of fragile X premutations. Based on haplotype analysis of nearby markers, they were found to have inherited a fragile X chromosome from their premutation carrier mothers, and yet had normal size FMRl repeat alleles. The changes in repeat sizes
Methylation and mutation patterns in the fragile X syndrome
✍ Scribed by Malmgren, Helena ;Steén-Bondeson, Marie-Louise ;Gustavson, Karl-Henrik ;Seémanova, Eva ;Holmgren, Gösta ;Oberlé, Isabelle ;Mandel, Jean-Louis ;Pettersson, Ulf ;Dahl, Niklas
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 749 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0148-7299
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