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    Med Wieku Rozwoj. 2002 Oct-Dec;6(4):295-308.

    [Molecular pathogenesis of fragile X syndrome].

    [Article in Polish]
    Sielska D, Milewski M, Bal J.

    Source

    Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17A, 01-211 Warszawa, Poland. dsielska@imid.med.pl

    Abstract

    The fragile X syndrome is an X-linked genetic disorder; manifesting primarily as intellectual disability. The disease is caused by the absence of functional FMRP, a protein encoded by the FMR1 gene. The expansion of trinucleotide repeats within the first exon of the gene contributes to most cases of the syndrome. This review summarizes the present knowledge of the relationship between the molecular defect in the FMR1 gene and the clinical phenotype associated with disease.

    PMID:
    12810982
    [PubMed - indexed for MEDLINE]

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