A DFNA5 Mutation Identified in Japanese Families with Autosomal Dominant Hereditary Hearing Loss-Reference-Cited by-同舟云学术

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A DFNA5 Mutation Identified in Japanese Families with Autosomal Dominant Hereditary Hearing Loss

Published:2014-02-10 Issue:2 Volume:78 Page:83-91
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Nishio Ayako¹,Noguchi Yoshihiro¹,Sato Tatsuya¹,Naruse Taeko K.²,Kimura Akinori²,Takagi Akira³,Kitamura Ken¹

Affiliation:

1. Department of OtolaryngologyTokyo Medical and Dental University Tokyo Japan

2. Department of Molecular PathogenesisMedical Research InstituteTokyo Medical and Dental University Tokyo Japan

3. Department of OtorhinolaryngologyHead and Neck SurgeryShizuoka General Hospital Shizuoka Japan

Funder

JSPS KAKENHI

grant-in-aid for scientific research from the Ministry of Health, Labor and Welfare of Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12053

Reference21 articles.

1. A Novel Mutation Identified in the DFNA5 Gene in a Dutch Family: A Clinical and Genetic Evaluation

2. A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family

3. Further Delineation of the DFNA5 Phenotype: Results of Speech Recognition Tests

4. A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment

5. Function and Expression Pattern of Nonsyndromic Deafness Genes

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