Article
Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population.
Clinical genetics - 1 Dec 2009
Lévesque S, Dombrowski C, Morel M-L, Rehel R, Côté J-S, Bussières J, Morgan K, Rousseau F
Abstract excerpt
To study the instability of FMR1 triplet repeats in the general population, we screened a prospective sample of 24,449 anonymized mother-offspring pairs and analyzed transmissions of intermediate-size (45-54 triplets) and premutation-size (55-200 triplets) alleles. We screened all mothers for alleles > or = 45 triplets by Southern blot and studied transmission of 545 maternal alleles to their offspring using...
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