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A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis
We identified a novel mutation of the tumor-associated calcium signal transducer 2 (TACSTD2) gene in a Japanese patient with gelatinous drop-like corneal dystrophy (GDLD). Genetic analysis revealed a novel homozygous mutation (c.798delG, which may result in frameshift mutation p.Lys267SerfsTer4) in...
Kaydedildi:
| Yayımlandı: | Hum Genome Var |
|---|---|
| Asıl Yazarlar: | , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Nature Publishing Group UK
2019
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6804947/ https://ncbi.nlm.nih.gov/pubmed/31666974 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0060-z |
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