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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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Hlavní autoři: Khaniani, Mahmoud S, Kalitsis, Paul, Burgess, Trent, Slater, Howard R
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2008
Témata:
On-line přístup: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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