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An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree

PURPOSE: To identify the gene mutation underlying Avellino corneal dystrophy in a four-generation Chinese pedigree. METHODS: Patients from the affected family underwent detailed clinical examination involving slit-lamp photography and confocal microscopy. Genomic DNA extracted from peripheral leukoc...

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Dades bibliogràfiques
Format: Article
Idioma:en
Publicat: Molecular Vision 2011
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3244477/
https://ncbi.nlm.nih.gov/pubmed/22194646
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