Detection and Functional Verification of Noncanonical Splice Site Mutations in Hereditary Deafness
Splice site mutations contribute to a significant portion of the genetic causes for mendelian disorders including deafness. By next-generation sequencing of 4 multiplex, autosomal dominant families and 2 simplex, autosomal recessive families with hereditary deafness, we identified a variety of candi...
محفوظ في:
| المؤلفون الرئيسيون: | , , , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Frontiers Media S.A.
2021-12-01
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| سلاسل: | Frontiers in Genetics |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://www.frontiersin.org/articles/10.3389/fgene.2021.773922/full |
| الوسوم: |
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