Usher syndrome type 1 due to missense mutations on bothCDH23 alleles: investigation of mRNA splicing-Reference-Cited by-同舟云学术

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Usher syndrome type 1 due to missense mutations on bothCDH23 alleles: investigation of mRNA splicing

Published:2008 Issue:3 Volume:29 Page:452-452
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Becirovic Elvir,Ebermann Inga,Nagy Ditta,Zrenner Eberhart,Seeliger Mathias Wolfgang,Bolz Hanno Jörn

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.9526/fullpdf

Cited by 23 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. Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in CDH23;Ophthalmic Genetics;2024-08-02

2. Usher syndrome: Genetic diagnosis and current therapeutic approaches;World Journal of Otorhinolaryngology;2024-01-19

3. Characterization of Usher Syndrome Cell line Genotypes and Elucidation of Novel MicroRNA Biomarkers using MicroRNA Microarray and Droplet Digital PCR;2024-01-18

4. A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation;Audiology and Neurotology;2023

5. Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss;BMC Medical Genomics;2022-06-27

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