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The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

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The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

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Aller, E.; Larrieu, L.; Jaijo, T.; David Baux; Espinós-Armero, CÁ.; González-Candelas, F.; Nájera, C.... (2010). The USH2A c.2299delG mutation: dating its common origin in a Southern European population. European Journal of Human Genetics. 18(7):788-793. https://doi.org/10.1038/ejhg.2010.14

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Metadatos del ítem

Título: The USH2A c.2299delG mutation: dating its common origin in a Southern European population.
Autor: Aller, Elena Larrieu, Lise Jaijo, Teresa David Baux Espinós-Armero, Carmen Ángeles González-Candelas, Fernando Nájera, Carmen Palau, Francesc Claustres, Mireille Roux, Anne Françoise Millán, José M.
Entidad UPV: Universitat Politècnica de València. Escuela Técnica Superior de Ingeniería Agronómica y del Medio Natural - Escola Tècnica Superior d'Enginyeria Agronòmica i del Medi Natural
Fecha difusión:
Resumen:
[EN] Usher syndrome type II is the most common form of Usher syndrome. USH2A is the main responsible gene of the three known to be disease causing. It encodes two isoforms of the protein usherin. This protein is part of ...[+]
Palabras clave: USH2A , C.2299delG , Haplotype , Dating
Derechos de uso: Reserva de todos los derechos
Fuente:
European Journal of Human Genetics. (eissn: 1018-4813 )
DOI: 10.1038/ejhg.2010.14
Editorial:
Nature Publishing Group
Versión del editor: https://doi.org/10.1038/ejhg.2010.14
Código del Proyecto:
info:eu-repo/grantAgreement/ISCIII//FIS PI07%2F0558/
info:eu-repo/grantAgreement/MESR//7802/
Agradecimientos:
We are grateful to the participating patients and their relatives and to the FAARPEE for their help and co-operation. This work was supported by grants from the Fondo de Investigaciones Sanitarias (FIS07/0558) and from the ...[+]
Tipo: Artículo

References

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