Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

Autor: Aller, E., Jaijo, T., Wijk, E., Ebermann, I., Kersten, F., Gema García-García, Voesenek, K., Aparisi, M. J., Hoefsloot, L., Cremers, C., Díaz-Llopis, M., Pennings, R., Bolz, H. J., Kremer, H., Millán, J. M.

Publikováno v: MOLECULAR VISION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Molecular Vision
Europe PubMed Central
Scopus-Elsevier
Molecular Vision, 16, 495-500
Molecular Vision, 16, pp. 495-500

Contains fulltext : 89306.pdf (Publisher’s version ) (Open Access) PURPOSE: It has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss (NSHL; DFNB31)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b3ba047ffbbbf30bfdb526f1568efb67
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2974

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Novel mutations in the USH1C gene in Usher syndrome patients

Autor: Aparisi, M. J., García-García, G., Jaijo, T., Rodrigo, R., Graziano, C., Marco Seri, Simsek, T., Simsek, E., Bernal, S., Baiget, M., Pérez-Garrigues, H., Aller, E., María Millán, J.

Publikováno v: Scopus-Elsevier
MOLECULAR VISION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Molecular Vision
Europe PubMed Central

PURPOSE: Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by severe-profound sensorineural hearing loss, retinitis pigmentosa, and vestibular areflexia. To date, five USH1 genes have been identified. One of these genes is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3d6b956503b159af3a7cae9de5759818
http://www.scopus.com/inward/record.url?eid=2-s2.0-79551708550&partnerID=MN8TOARS