A novel splice site mutation inEYA4 causes DFNA10 hearing loss-Reference-Cited by-同舟云学术

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A novel splice site mutation inEYA4 causes DFNA10 hearing loss

Published:2007-07-15 Issue:14 Volume:143A Page:1599-1604
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Hildebrand Michael S.,Coman David,Yang Tao,Gardner R.J. McKinlay,Rose Elizabeth,Smith Richard J.H.,Bahlo Melanie,Dahl Hans-Henrik M.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference23 articles.

1. A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

2. Merlin—rapid analysis of dense genetic maps using sparse gene flow trees

3. A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1)

4. Detection of mutations in theCOL4A5gene by SSCP in X-linked Alport syndrome

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1. Identification of a novel mutation of EYA4 in a Chinese family with delayed nonsyndromic hearing loss and analysis of molecular epidemiology of EYA4 mutations;2024-03-25

2. miR-431 secreted by human vestibular schwannomas increases the mammalian inner ear’s vulnerability to noise trauma;Frontiers in Neurology;2023-10-09

3. Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review;Biomedicines;2023-06-01

4. Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss;BMC Medical Genomics;2022-05-16

5. Detection and Functional Verification of Noncanonical Splice Site Mutations in Hereditary Deafness;Frontiers in Genetics;2021-12-08

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