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A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation

Blepharophimosis syndrome is an autosomal dominant disease characterised by eyelid malformations, associated or not with premature ovarian failure. It is caused by mutations in the FOXL2 gene, which encodes a forkhead transcription factor containing a polyalanine (polyAla) domain of 14 alanines. Exp...

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Detalhes bibliográficos
Main Authors: Caburet, S, Demarez, A, Moumne, L, Fellous, M, De Baere, E, Veitia, R
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2004
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735658/
https://ncbi.nlm.nih.gov/pubmed/15591279
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.024356
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