Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss-Reference-Cited by-同舟云学术

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Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss

Published:2002-07-01 Issue:7 Volume:39 Page:502-506
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:
Short-container-title:

Author:

Migliosi V

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Cited by 111 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Hearing loss secondary to variants in the OTOF gene;International Journal of Pediatric Otorhinolaryngology;2024-11

2. A base editor for the long-term restoration of auditory function in mice with recessive profound deafness;Nature Biomedical Engineering;2024-08-12

3. Gene therapy advancements for the treatment of acquired and hereditary hearing loss;Frontiers in Audiology and Otology;2024-07-17

4. Recovery kinetics of dual AAV-mediated human otoferlin expression;Frontiers in Molecular Neuroscience;2024-06-17

5. AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial;The Lancet;2024-05

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