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Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells
Congenital cataract (CC) is a clinical and genetically heterogeneous eye disease that primarily causes lens disorder and even amblyopic blindness in children. As the mechanism underlying CC is genetically inherited, identification of CC-associated gene mutations and their role in protein distributio...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Sci Rep |
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| Κύριοι συγγραφείς: | , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group UK
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5736644/ https://ncbi.nlm.nih.gov/pubmed/29259299 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-18222-z |
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