Two novel mutations of TACSTD2 found in three Japanese gelatinous drop-like corneal dystrophy families with their aberrant subcellular localization

PURPOSE: To report two novel mutation of the tumor-associated calcium signal transducer 2 (TACSTD2) gene in 3 Japanese patients with gelatinous drop-like corneal dystrophy (GDLD). METHODS: Genomic DNAs were extracted from the peripheral blood of 3 Japanese families. The coding region of TACSTD2 was...

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Detalles Bibliográficos
Autores principales: Nakatsukasa, Mina, Kawasaki, Satoshi, Yamasaki, Kenta, Fukuoka, Hideki, Matsuda, Akira, Nishida, Kohji, Kinoshita, Shigeru
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084224/
https://www.ncbi.nlm.nih.gov/pubmed/21541270

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