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Leber Congenital Amaurosis Caused by Mutations in GUCY2D
Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous group of diseases that account for the most severe form of early-onset retinal dystrophy. Mutations in retinal guanylate cyclase-1 (GUCY2D) are associated with LCA1, a prevalent form. GUCY2D encodes guanylate cyclase-1 (G...
Tallennettuna:
| Julkaisussa: | Cold Spring Harb Perspect Med |
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| Päätekijä: | |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Cold Spring Harbor Laboratory Press
2015
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4292079/ https://ncbi.nlm.nih.gov/pubmed/25256176 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a017350 |
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