| AIPL1突变患者先天性Leber黑蒙表现型 |
| |
| 引用本文： | Sharola Dharmaraj Ban P. Leroy Melanie M. Sohocki Robert K. Koenekoop Isabelle Perrault Khalid Anwar Shagufta Khaliq R. Summathi Devi David G. Birch Elaine De Pool Natalio Izquierdo Lionel Van Maldergem Mohammad Ismail Annette M. Payne Graham E. Holder Shomi S. Bhattacharya Alan C. Bird Josseline Kaplan Irene H. Maumenee 刘欣怡（译）. AIPL1突变患者先天性Leber黑蒙表现型[J]. 美国医学会眼科杂志(中文版), 2005, 17(2): 119-120 |
| |
| 作者姓名： | Sharola Dharmaraj Ban P. Leroy Melanie M. Sohocki Robert K. Koenekoop Isabelle Perrault Khalid Anwar Shagufta Khaliq R. Summathi Devi David G. Birch Elaine De Pool Natalio Izquierdo Lionel Van Maldergem Mohammad Ismail Annette M. Payne Graham E. Holder Shomi S. Bhattacharya Alan C. Bird Josseline Kaplan Irene H. Maumenee 刘欣怡（译） |
| |
| 摘 要： | 目的：叙述26例先证者中芳香族羟基碳氢化合物受体蛋白样1蛋白质（AIPL1）突变的先天性Leber黑蒙（LCA）的表现型，并比较其他LCA相关性基因的表现型。叙述杂合子携带者的视网膜电图（ERG）。
|
| 关 键 词： | Leber黑蒙 表现型 先天性 突变 患者 碳氢化合物 相关性基因 视网膜电图 受体蛋白 蛋白质 |
The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations |
| |
| Sharola;Dharmaraj;Ban;P.;Leroy;Melanie;M.;Sohocki;Robert;K.;Koenekoop;Isabelle;Perrault;Khalid;Anwar;Shagufta;Khaliq;R.;Summathi;Devi;David;G.;Birch;Elaine;De;Pool;Natalio;Izquierdo;Lionel;Van;Maldergem;Mohammad;Ismail;Annette;M.;Payne;Graham;E.;Holder;Shomi;S.;Bhattacharya;Alan;C.;Bird;Josseline;Kaplan;Irene;H.;Maumenee;Liu XinYi. The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations[J]. Archives of Ophthalmology, 2005, 17(2): 119-120 |
| |
| Authors: | Sharola Dharmaraj Ban P. Leroy Melanie M. Sohocki Robert K. Koenekoop Isabelle Perrault Khalid Anwar Shagufta Khaliq R. Summathi Devi David G. Birch Elaine De Pool Natalio Izquierdo Lionel Van Maldergem Mohammad Ismail Annette M. Payne Graham E. Holder Shomi S. Bhattacharya Alan C. Bird Josseline Kaplan Irene H. Maumenee Liu XinYi |
| |
| Abstract: | |
| |
| Keywords: | |
| 本文献已被 维普 等数据库收录！ |
