Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

BACKGROUND: Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cata...

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Detalles Bibliográficos
Autores principales: Eisenberger, Tobias, Slim, Rima, Mansour, Ahmad, Nauck, Markus, Nürnberg, Gudrun, Nürnberg, Peter, Decker, Christian, Dafinger, Claudia, Ebermann, Inga, Bergmann, Carsten, Bolz, Hanno Jörn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3518140/
https://www.ncbi.nlm.nih.gov/pubmed/22938382
http://dx.doi.org/10.1186/1750-1172-7-59

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