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Molecular analysis of FMR1 gene in a population in Southern Brazil: Comparison of four methods

OBJECTIVES: Fragile X syndrome (FXS) is caused by expansion of the number of cytosine-guanine-guanine (CGG) repeats in the regulatory region of the gene fragile X mental retardation 1 (FMR1). The molecular diagnoses of FXS can be performed using two tests based on two different techniques, namely po...

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Detaylı Bibliyografya
Yayımlandı:Pract Lab Med
Asıl Yazarlar: Ramos, Cinthia, Ocampos, Maristela, Barbato, Ingrid Tremel, Graça Bicalho, Maria da, Nisihara, Renato
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2020
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7225725/
https://ncbi.nlm.nih.gov/pubmed/32426440
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.plabm.2020.e00162
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