Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations

The human mitochondrial 12S ribosomal RNA (rRNA) A1555G mutation has been associated with aminoglycoside-induced and nonsyndromic deafness in many families worldwide. Our previous investigation revealed that the A1555G mutation is a primary factor underlying the development of deafness but is not su...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Guan, Min-Xin, Yan, Qingfeng, Li, Xiaoming, Bykhovskaya, Yelena, Gallo-Teran, Jaime, Hajek, Petr, Umeda, Noriko, Zhao, Hui, Garrido, Gema, Mengesha, Emebet, Suzuki, Tsutomu, Castillo, Ignacio del, Peters, Jennifer Lynne, Li, Ronghua, Qian, Yaping, Wang, Xinjian, Ballana, Ester, Shohat, Mordechai, Lu, Jianxin, Estivill, Xavier, Watanabe, Kimitsuna, Fischel-Ghodsian, Nathan
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2006
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1559489/
https://ncbi.nlm.nih.gov/pubmed/16826519
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados