Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia

BACKGROUND: Haploinsufficiency at the PAX6 locus causes aniridia, a panocular eye condition characterized by iris hypoplasia and a variety of other anterior and posterior eye defects leading to poor vision. This study was performed to identify novel PAX6 mutations that lead to familial aniridia in I...

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מידע ביבליוגרפי
Main Authors: Neethirajan, Guruswamy, Nallathambi, Jeyabalan, Krishnadas, Subbaiah Ramasamy, Vijayalakshmi, Perumalsamy, Shashikanth, Shetty, Collinson, Jon Martin, Sundaresan, Periasamy
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2006
נושאים:
Research Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC1544350/
https://ncbi.nlm.nih.gov/pubmed/16803629
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2415-6-28
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