Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy

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 surgic...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Genome Var
Prif Awduron: Jongkhajornpong, Passara, Lekhanont, Kaevalin, Ueta, Mayumi, Kitazawa, Koji, Kawasaki, Satoshi, Kinoshita, Shigeru
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2015
Pynciau:
Data Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785563/
https://ncbi.nlm.nih.gov/pubmed/27081552
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.47
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