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- W2416627105 abstract "We identified a novel mutation in the tumor-associated calcium signal transducer 2 (TACSTD2) gene in a consanguineous Thai family with gelatinous drop-like corneal dystrophy (GDLD). All affected family members presented with an intense amyloid substance deposited on the cornea, which required surgical management. Genetic analysis of these individuals revealed a homozygous mutation c.79delC, in the TACSTD2 gene. Both parents of these individuals were unaffected and showed heterozygous mutations in the TACSTD2 gene. The mutation produced a truncated protein sequence that might be the cause of GDLD." @default.
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- W2416627105 date "2015-11-26" @default.
- W2416627105 modified "2023-10-11" @default.
- W2416627105 title "Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy" @default.
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- W2416627105 doi "https://doi.org/10.1038/hgv.2015.47" @default.
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