Pendred syndrome, DFNB4, andPDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Pendred syndrome, DFNB4, andPDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

Published:2001 Issue:5 Volume:17 Page:403-411
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Campbell Colleen,Cucci Robert A.,Prasad Sai,Green Glenn E.,Edeal J. Bradley,Galer Chad E.,Karniski Lawrence P.,Sheffield Val C.,Smith Richard J.H.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference28 articles.

1. Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus

2. A novel mutation in the pendrin gene associated with Pendred's syndrome

3. Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)

4. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

5. Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear

Cited by 260 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. CRISPR/Cas9-mediated exon skipping to restore premature translation termination in a DFNB4 mouse model;Gene Therapy;2024-09-04

2. Predictive accuracy of wideband absorbance in children with large vestibular aqueduct syndrome: A single-center retrospective study;Heliyon;2024-07

3. Enlarged vestibular aqueduct as a cause of postneonatal deafness;Acta Otorrinolaringologica (English Edition);2024-05

4. The role of SLC26A4 in bony labyrinth development and otoconial mineralization in mouse models;Frontiers in Molecular Neuroscience;2024-04-29

5. Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of SLC26A4 in Various Organs;International Journal of Molecular Sciences;2024-04-10

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3