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Functional interactions between alternatively spliced forms of Pax6 in crystallin gene regulation and in haploinsufficiency

Pax6 is essential for development of the eye, olfactory system, brain and pancreas. Haploinsufficiency of Pax6 causes abnormal eye development. Two forms of Pax6 protein, PAX6 and PAX6(5a), differ in a 14 amino acid insertion encoded by an alternatively spliced exon 5a in the N-terminal DNA-binding...

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Autori principali: Chauhan, Bharesh K., Yang, Ying, Cveklová, Květa, Cvekl, Aleš
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2004
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC390332/
https://ncbi.nlm.nih.gov/pubmed/15020706
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkh334
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