Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome

BACKGROUND: Axenfeld-Rieger syndrome (ARS) is associated with mutations in the PITX2 gene that encodes a homeobox transcription factor. Several intronic PITX2 mutations have been reported in Axenfeld-Rieger patients but their effects on gene expression have not been tested. METHODS: We present two n...

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Detalles Bibliográficos
Autores principales: Maciolek, Nicole L, Alward, Wallace LM, Murray, Jeffrey C, Semina, Elena V, McNally, Mark T
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1553432/
https://www.ncbi.nlm.nih.gov/pubmed/16834779
http://dx.doi.org/10.1186/1471-2350-7-59

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1553432/
https://www.ncbi.nlm.nih.gov/pubmed/16834779
http://dx.doi.org/10.1186/1471-2350-7-59

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