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Genotyping with a 198 Mutation Arrayed Primer Extension Array for Hereditary Hearing Loss: Assessment of Its Diagnostic Value for Medical Practice

Molecular diagnostic testing of individuals with congenital sensorineural hearing loss typically begins with DNA sequencing of the GJB2 gene. If the cause of the hearing loss is not identified in GJB2, additional testing can be ordered. However, the step-wise analysis of several genes often results...

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Detalles Bibliográficos
Autores principales: Rodriguez-Paris, Juan, Pique, Lynn, Colen, Tahl, Roberson, Joseph, Gardner, Phyllis, Schrijver, Iris
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2909915/
https://www.ncbi.nlm.nih.gov/pubmed/20668687
http://dx.doi.org/10.1371/journal.pone.0011804