Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant
Abstract Background To describe the clinical phenotype and genetic cause underlying the disease pathology in a pedigree (affected n = 9) with X-linked retinoschisis (XLRS1) due to a novel RS1 mutation and to assess suitability for novel therapies using multimodal imaging. Methods The Irish National...
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Principais autores: | , , , , , , |
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Formato: | Livro |
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BMC,
2018-11-01T00:00:00Z.
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Número de Chamada: |
A1234.567 |
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Cópia 1 | Disponível |