Point mutations in GLI3 lead to misregulation of its subcellular localization.

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 o...

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Bibliographic Details
Main Authors: Sybille Krauss, Joyce So, Melanie Hambrock, Andrea Köhler, Melanie Kunath, Constance Scharff, Martina Wessling, Karl-Heinz Grzeschik, Rainer Schneider, Susann Schweiger
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2009-10-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC2758996?pdf=render

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