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An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families

PURPOSE: A genetic and clinical study of three unrelated Chinese pedigrees with a variable phenotype of lattice corneal dystrophy type I (LCD I). METHODS: The eyes of the patients were examined by slit lamp microscopy, and other clinical records were also collected. Genomic DNA was extracted from pe...

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Библиографические подробности
Главные авторы: Liu, Zhe, Wang, Yi-qiang, Gong, Qing-hua, Xie, Li-xin
Формат: Artigo
Язык:Inglês
Опубликовано: Molecular Vision 2008
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2443752/
https://ncbi.nlm.nih.gov/pubmed/18615206
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