Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract
AIM: To summarize the phenotypes and identify the underlying genetic cause of the CRYBB1 and CRYBB2 gene responsible for congenital cataract in two Chinese families. METHODS: Detailed family histories and clinical data were collected from patients during an ophthalmologic examination. Of 523 inheri...
محفوظ في:
| المؤلفون الرئيسيون: | , , , , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Press of International Journal of Ophthalmology (IJO PRESS)
2018-10-01
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| سلاسل: | International Journal of Ophthalmology |
| الموضوعات: | |
| الوصول للمادة أونلاين: | http://www.ijo.cn/en_publish/2018/10/20181001.pdf |
| الوسوم: |
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