Cargando…
Molecular epidemiology of DFNB1 deafness in France
BACKGROUND: Mutations in the GJB2 gene have been established as a major cause of inherited non syndromic deafness in different populations. A high number of sequence variations have been described in the GJB2 gene and the associated pathogenic effects are not always clearly established. The prevalen...
Autores principales: | Roux, Anne-Françoise, Pallares-Ruiz, Nathalie, Vielle, Anne, Faugère, Valérie, Templin, Carine, Leprevost, Dorothée, Artières, Françoise, Lina, Geneviève, Molinari, Nicolas, Blanchet, Patricia, Mondain, Michel, Claustres, Mireille |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2004
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC385234/ https://www.ncbi.nlm.nih.gov/pubmed/15070423 http://dx.doi.org/10.1186/1471-2350-5-5 |
Ejemplares similares
-
First molecular screening of deafness in the Altai Republic population
por: Posukh, Olga, et al.
Publicado: (2005) -
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort
por: García-García, Gema, et al.
Publicado: (2013) -
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome
por: Le Guédard, Sandie, et al.
Publicado: (2007) -
Assessment of the latest NGS enrichment capture methods in clinical context
por: García-García, Gema, et al.
Publicado: (2016) -
EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus
por: Hoefsloot, Lies H, et al.
Publicado: (2013)