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3′ deletions cause aniridia by preventing PAX6 gene expression

Aniridia is a panocular human eye malformation caused by heterozygous null mutations within PAX6, a paired-box transcription factor, or cytogenetic deletions of chromosome 11p13 that encompass PAX6. Chromosomal rearrangements also have been described that disrupt 11p13 but spare the PAX6 transcripti...

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Bibliografiske detaljer
Main Authors: Lauderdale, James D., Wilensky, Jonathan S., Oliver, Edward R., Walton, David S., Glaser, Tom
Format: Artigo
Sprog:Inglês
Udgivet: The National Academy of Sciences 2000
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC17648/
https://ncbi.nlm.nih.gov/pubmed/11087823
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