Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA

We report on a fragile X mosaic male full mutation/normal allele detected by PCR and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). This combined analysis provides a diagnostic approach for fragile X syndrome (FXS). The method assesses the presence of expansion (ful...

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Detalhes bibliográficos
Main Authors: Todorov, Tihomir, Todorova, Albena, Kirov, Andrey, Dimitrov, Boyan, Carvalho, Ralph, Nygren, Anders O H, Boneva, Iliana, Mitev, Vanyo
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3028058/
https://ncbi.nlm.nih.gov/pubmed/21686918
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.06.2008.0139
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