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Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases
Significant number out of 2.2 billion vision impairments in the world can be attributed to genetics. The current study is aimed to decipher the genetic basis of Leber congenital Amaurosis (LCA), Anterior Segment dysgenesis (ASD), and Retinitis Pigmentosa (RP), segregating in four large consanguineou...
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| Опубликовано в: : | PLoS One |
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| Главные авторы: | , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Public Library of Science
2020
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7518604/ https://ncbi.nlm.nih.gov/pubmed/32976546 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0239748 |
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