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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)

BACKGROUND: 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 whose offspring are at a 1...

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Bibliografiske detaljer
Main Authors: Khaniani, Mahmoud S, Kalitsis, Paul, Burgess, Trent, Slater, Howard R
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2008
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2375882/
https://ncbi.nlm.nih.gov/pubmed/18471319
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-1-5
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