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A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent
Glaucoma is the second leading cause of blindness, affecting ~65 million people worldwide. We identified and ascertained a large cohort of inbred families with multiple individuals manifesting cardinal symptoms of primary congenital glaucoma (PCG) to investigate the etiology of the disease at a mole...
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| 發表在: | Hum Genome Var |
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| Main Authors: | , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2016
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4972894/ https://ncbi.nlm.nih.gov/pubmed/27508083 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.21 |
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