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Chinese family with atypical granular corneal dystrophy type I caused by the typical R555W mutation in TGFBI

AIM: To investigate the clinical features and genetic defects in four generations of a Chinese family affected with atypical granular corneal dystrophy type I (GCD type I). METHODS: Family history and clinical data were recorded. Genomic DNA samples were obtained from peripheral blood leukocytes of...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Zhao, Su-Juan, Zhu, Ya-Nan, Shentu, Xing-Chao, Miao, Qi
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: International Journal of Ophthalmology Press 2013
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3755303/
https://ncbi.nlm.nih.gov/pubmed/23991378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3980/j.issn.2222-3959.2013.04.09
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