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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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Detalhes bibliográficos
Main Authors: Rodriguez-Paris, Juan, Pique, Lynn, Colen, Tahl, Roberson, Joseph, Gardner, Phyllis, Schrijver, Iris
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2909915/
https://ncbi.nlm.nih.gov/pubmed/20668687
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0011804
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