Article

p.S45G mutation at a conserved phosphorylation site of αA-crystallin in juvenile cortical cataract

2023-03-20

Abstract excerpt

<h4>Purpose: </h4> To identify the potential genetic cause in a patient diagnosed with juvenile cortical cataract. Observations: A young patient diagnosed with cortical cataract by ophthalmologic examination was recruited for the current study. DNA isolation was done followed by resequencing of all exons and exon-intron boundaries of 3 genes CRYAA , CRYAB and CRYBB1 , using intron specific primers. A mutation in...

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Literature Corpus work: 75cec081-2502-5a18-8956-4685fa58a0a9
DOI: 10.21203/rs.3.rs-2651222/v1

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