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Epigenetic Promoter Silencing in Friedreich Ataxia is Dependent on Repeat Length

OBJECTIVE: Friedreich ataxia (FRDA) is caused by an expanded GAA triplet-repeat (GAA-TR) mutation in the FXN gene. Patients are typically homozygous for expanded alleles containing 100–1300 triplets, and phenotypic severity is significantly correlated with the length of the shorter of the two expand...

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Detalhes bibliográficos
Main Authors: Chutake, Yogesh K., Lam, Christina, Costello, Whitney N., Anderson, Michael, Bidichandani, Sanjay I.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4191993/
https://ncbi.nlm.nih.gov/pubmed/25112975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24249
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