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Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect.

The still debated question of whether the expression of mental retardation in heterozygous carriers of the Martin-Bell syndrome is influenced by X inactivation has been investigated in a group of phase-known double heterozygotes for the FRA-X mutant and the G6PD Mediterranean variant. In these indiv...

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Detalhes bibliográficos
Main Authors: Rocchi, M, Archidiacono, N, Rinaldi, A, Filippi, G, Bartolucci, G, Fancello, G S, Siniscalco, M
Formato: Artigo
Idioma:Inglês
Publicado em: 1990
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683671/
https://ncbi.nlm.nih.gov/pubmed/2316520
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