DNA testing for fragile X syndrome: implications for parents and family.

The fragile X syndrome is an X linked, semidominant mental retardation disorder caused by the amplification of a CGG repeat in the 5' UTR of the FMR1 gene. Nineteen fragile X families in which the mutated FMR1 gene segregated were evaluated. The implications of the diagnosis for the parents and...

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Bibliografiska uppgifter
Huvudupphovsmän: van Rijn, M A, de Vries, B B, Tibben, A, van den Ouweland, A M, Halley, D J, Niermeijer, M F
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1997
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051118/
https://ncbi.nlm.nih.gov/pubmed/9391884
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