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- W2047363071 abstract "To report a novel de novo mutation in the cone-rod homeobox (CRX) gene in a Japanese patient with Leber congenital amaurosis (LCA).The CRX gene was analyzed by direct genomic sequencing in a patient with LCA and in his healthy parents. A complete ophthalmologic examination was performed on the family.A heterozygotic deletion of G at nucleotid 520 in CRX, predicting a frameshift in codon 174 and a premature termination of translation [Ala174(1-bp del)], was identified in the proband. The mutation was not present in his unaffected parents.A novel de novo mutation in CRX was found in a Japanese patient with LCA." @default.
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- W2047363071 date "2002-09-01" @default.
- W2047363071 modified "2023-10-17" @default.
- W2047363071 title "Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis" @default.
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- W2047363071 doi "https://doi.org/10.1016/s0002-9394(02)01542-8" @default.
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