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Epilepsy and fragile X gene mutations

✍ Scribed by Gerhard Kluger; Ingolf Böhm; Michael C. Laub; Claus Waldenmaier


Book ID
117591657
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
302 KB
Volume
15
Category
Article
ISSN
0887-8994

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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