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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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Autors principals: Chutake, Yogesh K., Lam, Christina, Costello, Whitney N., Anderson, Michael, Bidichandani, Sanjay I.
Format: Artigo
Idioma:Inglês
Publicat: 2014
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Accés en línia: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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