A Novel Homozygous MYO7A Mutation: Case Report
MYO7A is an unconventional myosin that is essential for ordinary hearing and vision; mutations in the MYO7A gene result in Usher syndrome type 1B and other disorders. In this manuscript, we reported a mutation (c.4705delA) in exon 35, causing the alteration of a Ser amino acid to Ala at codon 1569...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Tehran University of Medical Sciences
2018-05-01
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| Series: | Acta Medica Iranica |
| Subjects: | |
| Online Access: | https://acta.tums.ac.ir/index.php/acta/article/view/6120 |