We aimed to establish correlations between the clinical features of a cohort of Usher syndrome (USH) patients with pathogenic variants in MYO7A, type of pathogenic variant, and location on the protein domain.
Detalhes bibliográficos
| Autores: |
Galbis-Martínez L,
Blanco-Kelly F,
García-García G,
Ávila-Fernández A,
Jaijo T,
Fuster-García C,
Perea-Romero I,
Zurita-Muñoz O,
Jimenez-Rolando B,
Carreño E,
García-Sandoval B,
Millán JM,
Ayuso C |
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| Tipo de documento: | artigo
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| Estado: | Versão publicada |
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| Data de publicação: | 2021 |
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| País: | España |
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| Recursos: | Centro de Investigación Principe Felipe (CIPF) |
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| Repositório: | r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF) |
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| OAI Identifier: | oai:cipf.fundanetsuite.com:p3837 |
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| Acesso em linha: | https://cipf.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3837
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| Access Level: | Acceso aberto |
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| Palavra-chave: | MYO7A , Usher syndrome, clinical trials, genetic screening, genotype-phenotype correlation |
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