An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation

Author:

Russo S.,Briscioli V.,Cogliati F.,Macchi M.,Lalatta F.,Larizza L.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference30 articles.

1. Fragile X syndrome is less common than previously estimated;Morton;J Med Genet,1997

2. Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype;Falik-Zaccai;Am J Hum Genet,1997

3. Population screening at the FRAGILE X and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers;Murray;Hum Mol Genet,1996

4. The high prevalence of fragile X premutation carrier females: is this frequency unique to the French population;Sherman;Am J Hum Genet,1995

5. Prevalence of carriers of premutation-size alleles of the FMR1 gene and implications for the population genetics of the fragile X syndrome;Rousseau;Am J Hum Genet,1995

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