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Linkage Analysis in Usher Syndrome type I (USH1) Families from Spain

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Linkage Analysis in Usher Syndrome type I (USH1) Families from Spain

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Espinós-Armero, CÁ.; Nájera, C.; Millán, JM.; Ayuso, C.; Baiget, M.; Pérez-Garrigues, H.; Rodrigo, O.... (1998). Linkage Analysis in Usher Syndrome type I (USH1) Families from Spain. Journal of Medical Genetics. 35(5):391-398. https://doi.org/10.1136/jmg.35.5.391

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Título: Linkage Analysis in Usher Syndrome type I (USH1) Families from Spain
Autor: Espinós-Armero, Carmen Ángeles Nájera, Carmen Millán, José María Ayuso, Carmen Baiget, Montserrat Pérez-Garrigues, Herminio Rodrigo, Onofre Vilela, Concepción Beneyto, Magdalena
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 (USH) is an autosomal recessive hereditary disorder characterised by congenital sensorineural hearing loss and gradual visual impairment secondary to retinitis pigmentosa (RP). The disorder is clinically ...[+]
Palabras clave: Usher syndrome , Linkage analysis , Genetic heterogeneity
Derechos de uso: Reconocimiento - No comercial (by-nc)
Fuente:
Journal of Medical Genetics. (eissn: 0022-2593 )
DOI: 10.1136/jmg.35.5.391
Editorial:
BMJ
Versión del editor: https://doi.org/10.1136/jmg.35.5.391
Código del Proyecto:
info:eu-repo/grantAgreement/ISCIII//95%2F1814//Retinosis Pigmentaria/
Agradecimientos:
The authors would like to thank the patients and their family members for their help and cooperation. We acknowledge the Asociación de retinosis pigmentaria de la Comunidad Valenciana, the FAARPEE, ONCE, Fundación ONCE, ...[+]
Tipo: Artículo

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