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Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families
Usher syndrome (USH) is a leading cause of deaf-blindness in autosomal recessive trait. Phenotypic and genetic heterogeneities in USH make molecular diagnosis much difficult. This is a pilot study aiming to develop an approach based on next-generation sequencing to determine the genetic defects in p...
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| Glavni autori: | , , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Public Library of Science
2013
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3667821/ https://ncbi.nlm.nih.gov/pubmed/23737954 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0063832 |
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