טוען...
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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| Main Authors: | , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BMJ Group
2004
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| נושאים: | |
| גישה מקוונת: | 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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