Portal de investigación
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- van Wijk E
- Ebermann I
- Kersten F
- Voesenek K
- Hoefsloot L
- Cremers C
- Pennings R
- Bolz HJ
- Kremer H
Abstract
It has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss (NSHL; DFNB31) and Usher syndrome type II (USH2D). We screened DFNB31 in a large cohort of patients with different clinical subtypes of Usher syndrome (USH) to determine the prevalence of DFNB31 mutations among USH patients.
Datos de la publicación
- ISSN/ISSNe:
- 1090-0535, 1090-0535
- Tipo:
- Article
- Páginas:
- 495-500
- PubMed:
- 20352026
- Factor de Impacto:
- 1,134 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
MOLECULAR VISION MOLECULAR VISION
Citas Recibidas en Web of Science: 14
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Cita
ALLER E,JAIJO T,van E,Ebermann I,Kersten F,GARCÍA G,Voesenek K,APARISI MJ,Hoefsloot L,Cremers C,DÍAZ M,Pennings R,Bolz HJ,Kremer H,MILLÁN JM. Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. Mol. Vis. 2010. 16. (54-57):p. 495-500. IF:2,511. (1).