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Point Mutations in GLI3 Lead to Misregulation of its Subcellular Localization
BACKGROUND: Mutations in the transcription factor GLI3, a downstream target of Sonic Hedgehog (SHH) signaling, are responsible for the development of malformation syndromes such as Greig-cephalopolysyndactyly-syndrome (GCPS), or Pallister-Hall-syndrome (PHS). Mutations that lead to loss of function...
Autores principales: | , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2758996/ https://www.ncbi.nlm.nih.gov/pubmed/19829694 http://dx.doi.org/10.1371/journal.pone.0007471 |