Upstream ORF frameshift variants in the PAX6 5′UTR cause Congenital Aniridia

2021 ◽  
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Alexandra Yu. Filatova ◽  
Tatyana A. Vasilyeva ◽  
Andrey V. Marakhonov ◽  
Natella V. Sukhanova ◽  
Anna A. Voskresenskaya ◽  
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Keyword(s):  
Upstream Orf ◽  
Congenital Aniridia

PAX6 Mutations and Clinical Features of Congenital Aniridia

2008 ◽  
Vol 49 (11) ◽  
pp. 1794 ◽  
Author(s):  
Jong Ho Kim ◽  
Bo Sung Hwang ◽  
Jung Ho Lee ◽  
Soon Cheol Cha
Keyword(s):  
Clinical Features ◽  
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Results of cataract surgery of patients with congenital aniridia in pediatric practice

2019 ◽  
Vol 30 (5) ◽  
pp. 20-23
Author(s):  
A.A. Voskresenskaya ◽  
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Y.N. Batkov ◽  
T.F. Vasilyeva ◽  
N.A. Pozdeyeva ◽  
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Keyword(s):  
Cataract Surgery ◽  
Pediatric Practice ◽  
Congenital Aniridia

scholarly journals Analysis of protein composition and protein expression in the tear fluid of patients with congenital aniridia

2013 ◽  
Vol 94 ◽  
pp. 78-88 ◽  
Author(s):  
Robert Ihnatko ◽  
Ulla Edén ◽  
Neil Lagali ◽  
Anette Dellby ◽  
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Keyword(s):  
Protein Expression ◽  
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Nephroblastoma (Wilms Tumor) and Congenital Aniridia

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pp. 140-143 ◽  
Author(s):  
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Michael K. Levine
Keyword(s):  
Wilms Tumor ◽  
Congenital Aniridia

scholarly journals A nonsensePAX6mutation in a family with congenital aniridia

2016 ◽  
Vol 59 (Suppl 1) ◽  
pp. S1 ◽  
Author(s):  
Kyoung Hee Han ◽  
Hye Jin Lee ◽  
Il-Soo Ha ◽  
Hee Gyung Kang ◽  
Hae Il Cheong
Keyword(s):  
Congenital Aniridia
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