| PAX6 and congenital eye malformations. | |
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MedLine Citation:
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PMID: 14561779 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The PAX6 gene is a paradigm for our understanding of the molecular genetics of mammalian eye development. Twelve years after its identification it is one of the most intensively studied genes, both in terms of its diverse and complex functions during oculogenesis and its role in an ever-increasing variety of human congenital eye malformations. The PAX6 field has benefited greatly from the continued input of clinicians, human geneticists and developmental biologists. This review summarizes the latest data on the PAX6 mutation spectrum and recent insights into Pax6 function from the mouse. |
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Authors:
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Isabel M Hanson |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2003-10-15 |
Journal Detail:
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Title: Pediatric research Volume: 54 ISSN: 0031-3998 ISO Abbreviation: Pediatr. Res. Publication Date: 2003 Dec |
Date Detail:
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Created Date: 2003-12-03 Completed Date: 2004-07-19 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0100714 Medline TA: Pediatr Res Country: United States |
Other Details:
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Languages: eng Pagination: 791-6 Citation Subset: IM |
Affiliation:
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Medical Genetics Section, University of Edinburgh, Molecular Medicine Centre, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, United Kingdom. isabel.hanson@ed.ac.uk |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Animals Child Eye Abnormalities / diagnosis, genetics* Eye Proteins Homeodomain Proteins / genetics* Humans Mutation Paired Box Transcription Factors Repressor Proteins |
| Chemical | |
Reg. No./Substance:
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0/Eye Proteins; 0/Homeodomain Proteins; 0/PAX6 protein; 0/Paired Box Transcription Factors; 0/Repressor Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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