G59S mutation in theGJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

G59S mutation in theGJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome

Published:2005 Issue:3 Volume:136A Page:282-284
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Alexandrino Fabiana,Sartorato Edi Lúcia,Marques-de-Faria Antonia Paula,Steiner Carlos Eduardo

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference22 articles.

1. Knuckle Pads, Leukonychia and Deafness

2. A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval

3. A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment

4. Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

Cited by 32 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. 4‐octyl itaconate improves the viability of D66H cells by regulating the KEAP1‐NRF2‐GCLC/HO‐1 pathway;Journal of Cellular and Molecular Medicine;2023-03-13

2. Bart‐Pumphrey syndrome and recurrent cholesteatoma: a casual association?;International Journal of Dermatology;2022-11-04

3. Connexin Mutations and Hereditary Diseases;International Journal of Molecular Sciences;2022-04-12

4. Hereditary Hearing Impairment with Cutaneous Abnormalities;Genes;2020-12-30

5. Bart-Pumphrey Syndrome;JAMA Dermatology;2020-10-01

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