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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: van Rijn, M A, de Vries, B B, Tibben, A, van den Ouweland, A M, Halley, D J, Niermeijer, M F
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 1997
विषय:
Research Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051118/
https://ncbi.nlm.nih.gov/pubmed/9391884
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