<i>DFNA5</i> (<i>GSDME</i>) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?
Deafness due to mutations in the <i>DFNA5</i> gene is caused by the aberrant splicing of exon 8, which results in a constitutively active truncated protein. In a large family of European descent (MORL-ADF1) segregating autosomal dominant nonsyndromic hearing loss, we used the OtoSCOPE pl...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2020-05-01
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| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/21/11/3951 |