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...

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Bibliografische gegevens
Gepubliceerd in:Hum Genome Var
Hoofdauteurs: Nagahara, Yukiko, Tsujikawa, Motokazu, Takigawa, Toru, Xu, Peng, Kai, Chifune, Kawasaki, Satoshi, Nakatsukasa, Mina, Inatomi, Tsutomu, Kinoshita, Shigeru, Nishida, Kohji
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group UK 2019
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Article
Online toegang: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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