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An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1)

<p>Abstract</p> <p>Background</p> <p>Fragile X syndrome (OMIM #300624) is the most common, recognised, heritable cause of mental retardation. Widespread testing is warranted by the relatively high frequency of the disorder, the benefits of early detection and the identification of related carriers w...

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Bibliografiske detaljer
Principais autores: Kalitsis Paul, Khaniani Mahmoud S, Burgess Trent, Slater Howard R
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2008-04-01
Serier:Molecular Cytogenetics
Online adgang:http://www.molecularcytogenetics.org/content/1/1/5
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