机译:ATP1A3的Capos突变改变Na / K-ATP酶功能,并导致听觉神经病变,这对管理有影响
Rigshosp Bispebjerg Dept Otorhinolaryngol Head &
Neck Surg &
Audiol Copenhagen Denmark;
Univ Med Ctr Dept Otolaryngol Auditory Syst Physiol Grp InnerEarLab Gottingen Germany;
Cty Hosp Kalmar ENT Dept Kalmar Sweden;
Copenhagen Univ Hosp Dept Clin Genet Kennedy Ctr Copenhagen Denmark;
Univ Aarhus Inst Biomed Aarhus Denmark;
Univ So Denmark MEMPHYS Ctr Biomembrane Phys Odense Denmark;
Univ So Denmark MEMPHYS Ctr Biomembrane Phys Odense Denmark;
Aarhus Univ Hosp Pediat Dept Aarhus Denmark;
CHRU Malad Sensorielles Genet Montpellier France;
Inst Neurosci Montpellier INSERM U1051 Montpellier France;
CHRU Malad Sensorielles Genet Montpellier France;
Rigshosp Dept Otorhinolaryngol Head &
Neck Surg &
Audiol Gentofte Hosp Hellerup Denmark;
Aarhus Univ Hosp Dept Audiol Aarhus Denmark;
Aarhus Univ Hosp Dept Ophthalmol Aarhus Denmark;
Rigshosp Glostrup Hosp Kennedy Ctr Eye Dept Glostrup Denmark;
Aarhus Univ Hosp Dept Neurol Aarhus Denmark;
Orebro Univ Fac Med &
Hlth Audiol Res Ctr Orebro Sweden;
Natl Hosp Neurol Dept Neurotol Queen Sq London WC1N 3BG England;
Great Ormond St Hosp Sick Children Dept Neurol London WC1N 3JH England;
Great Ormond St Hosp Sick Children North East Thames Reg Genet Serv London WC1N 3JH England;
Great Ormond St Hosp Sick Children Cochlear Implant Dept London WC1N 3JH England;
Great Ormond St Hosp Sick Children Dept Audiovestibular Med London WC1N 3JH England;
Royal Natl Throat Nose &
Ear Hosp Nuffield Hearing &
Speech Ctr London WC1X 8DA England;
Inst Child Hlth UCL Great Ormond St Genet &
Genom Med Programme London WC1N 1EH England;
Julius Maximilians Univ Wurzburg Inst Human Genet Wurzburg Germany;
Julius Maximilians Univ Wurzburg Inst Human Genet Wurzburg Germany;
Julius Maximilians Univ Wurzburg Inst Human Genet Wurzburg Germany;
Johannes Gutenberg Univ Mainz Inst Human Genet Univ Med Ctr Langenbeckstr 1 Mainz Germany;
Univ Med Ctr Dept Pediat &
Adolescent Med Div Pediat Neurol Gottingen Germany;
Univ Med Ctr Inst Auditory Neurosci Gottingen Germany;
Univ Copenhagen Inst Clin Med Copenhagen Denmark;
机译:校正:ATP1A3中的CAPOS突变改变Na / K-ATP酶功能并导致听觉神经病变,这对管理有影响
机译:ATP1A3突变可引起进行性听觉神经病:听觉突触病的新基因
机译:错误折叠,改变的膜分布和展开的蛋白质反应有助于Na,K-ATP酶ATP1A3突变的致病性差异
机译:人类雌激素受体基因的N端突变会改变其蛋白质产物的表达和功能
机译:询问热休克蛋白B1周围神经病变相关突变的功能后果。
机译:ATP1A3突变可引起进行性听觉神经病:听觉突触病的新基因
机译:校正:ATP1A3中的CAPOS突变改变Na / K-ATP酶功能,并导致听觉神经病变具有对管理的影响