Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.
Mutations in SALL1 and GLI3 are responsible for human limb malformation syndromes. The molecular pathophysiology of these mutations is incompletely understood, and many conclusions have been drawn from studies performed in the mouse. We identified truncating mutations in SALL1 and GLI3 in patients w...
| Main Authors: | , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2007
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