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Two novel mutations identified in two Chinese gelatinous drop-like corneal dystrophy families
PURPOSE: To identify the genetic defect in the TACSTD2 gene that causes gelatinous drop-like corneal dystrophy (GDLD) in two unrelated consanguineous Chinese families. METHODS: Genomic DNA was prepared from leukocytes of peripheral venous blood. The coding region of the TACSTD2 gene was evaluated by...
Autores principales: | , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2007
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774463/ https://www.ncbi.nlm.nih.gov/pubmed/17653040 |