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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...

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Detalles Bibliográficos
Autores principales: Zhang, Bei, Yao, Yu-Feng, Zhou, Ping
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774463/
https://www.ncbi.nlm.nih.gov/pubmed/17653040