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High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays

BACKGROUND: Despite current knowledge of mutations in 45 genes that can cause nonsyndromic sensorineural hearing loss (SNHL), no unified clinical test has been developed that can comprehensively detect mutations in multiple genes. We therefore designed Affymetrix resequencing microarrays capable of...

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Detalles Bibliográficos
Autores principales: Kothiyal, Prachi, Cox, Stephanie, Ebert, Jonathan, Husami, Ammar, Kenna, Margaret A, Greinwald, John H, Aronow, Bruce J, Rehm, Heidi L
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2841091/
https://www.ncbi.nlm.nih.gov/pubmed/20146813
http://dx.doi.org/10.1186/1472-6750-10-10