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Ala397Asp Mutation of Myosin VIIA Segregating in a Spanish Family with Usher Syndrome Type Ib

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Ala397Asp Mutation of Myosin VIIA Segregating in a Spanish Family with Usher Syndrome Type Ib

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dc.contributor.author Espinós-Armero, Carmen Ángeles es_ES
dc.contributor.author Millán, Jose M. es_ES
dc.contributor.author Sánchez, F. es_ES
dc.contributor.author Beneyto, M. es_ES
dc.contributor.author Nájera, C. es_ES
dc.date.accessioned 2023-12-28T19:02:55Z
dc.date.available 2023-12-28T19:02:55Z
dc.date.issued 1998-06 es_ES
dc.identifier.issn 0340-6717 es_ES
dc.identifier.uri http://hdl.handle.net/10251/201226
dc.description.abstract [EN] In the current study, 12 Spanish families affected by type-I Usher syndrome, that was previously linked to chromosome 11q, were screened for the presence of mutations in the N-terminal coding portion of the motor domain of the myosin VIIA gene by single-strand conformation polymorphism analysis of the first 14 exons. A mutation (Ala397Asp) segregating with the disease was identified, and several polymorphisms were also detected. It is presumed that the other USH1B mutations in these families could be located in the unscreened regions of the gene. es_ES
dc.description.sponsorship The authors would like to thank the Fondo de Investigaciones Sanitarias (FISS n0 95/1814), the ONCE and the Fundación ONCE for financial support. We acknowledge patients and their family members, as well as the Asociación de retinosis pigmentaria de la Comunidad Valenciana and the FAARPEE, for their help and cooperation. es_ES
dc.language Inglés es_ES
dc.publisher Springer-Verlag es_ES
dc.relation.ispartof Human Genetics es_ES
dc.rights Reserva de todos los derechos es_ES
dc.subject.classification BIOLOGIA CELULAR es_ES
dc.title Ala397Asp Mutation of Myosin VIIA Segregating in a Spanish Family with Usher Syndrome Type Ib es_ES
dc.type Artículo es_ES
dc.identifier.doi 10.1007/s004390050763 es_ES
dc.relation.projectID info:eu-repo/grantAgreement/ISCIII//95%2F1814//Retinosis Pigmentaria/ es_ES
dc.rights.accessRights Abierto es_ES
dc.contributor.affiliation Universitat Politècnica de València. Escuela Técnica Superior de Ingeniería Agronómica y del Medio Natural - Escola Tècnica Superior d'Enginyeria Agronòmica i del Medi Natural es_ES
dc.description.bibliographicCitation Espinós-Armero, CÁ.; Millán, JM.; Sánchez, F.; Beneyto, M.; Nájera, C. (1998). Ala397Asp Mutation of Myosin VIIA Segregating in a Spanish Family with Usher Syndrome Type Ib. Human Genetics. 102(6):691-694. https://doi.org/10.1007/s004390050763 es_ES
dc.description.accrualMethod S es_ES
dc.relation.publisherversion https://doi.org/10.1007/s004390050763 es_ES
dc.description.upvformatpinicio 691 es_ES
dc.description.upvformatpfin 694 es_ES
dc.type.version info:eu-repo/semantics/publishedVersion es_ES
dc.description.volume 102 es_ES
dc.description.issue 6 es_ES
dc.identifier.pmid 9703432 es_ES
dc.relation.pasarela S\505617 es_ES
dc.contributor.funder Fundación ONCE es_ES
dc.contributor.funder Instituto de Salud Carlos III es_ES


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