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A novel PAX6 deletion in a Chinese family with congenital aniridia
PURPOSE: To identify a disease-causing paired box 6 (PAX6) gene mutation in a Chinese family affected by autosomal dominant congenital aniridia. METHODS: All participants in the study, including the aniridia family and 100 unrelated senile cataract controls, received a comprehensive ophthalmic exami...
Αποθηκεύτηκε σε:
Κύριοι συγγραφείς: | , , , , , , , |
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Μορφή: | Artigo |
Γλώσσα: | Inglês |
Έκδοση: |
Molecular Vision
2012
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Θέματα: | |
Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3339035/ https://ncbi.nlm.nih.gov/pubmed/22550392 |
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