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A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk Populations

Fragile X syndrome, the most common inherited cause of intellectual impairment and the most common single gene associated with autism, generally occurs for fragile X mental retardation 1 (FMR1) alleles that exceed 200 CGG repeats (full-mutation range). Currently, there are no unbiased estimates of t...

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Detaylı Bibliyografya
Asıl Yazarlar: Tassone, Flora, Pan, Ruiqin, Amiri, Khaled, Taylor, Annette K., Hagerman, Paul J.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Investigative Pathology 2008
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2175542/
https://ncbi.nlm.nih.gov/pubmed/18165273
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2008.070073
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