Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations

被引：0
作者：
Richard Bergholz
Alfried Kohlschütter
Angela Schulz
Waltraud Hubert
Klaus Rüther
机构：
[1] Charité – Universitätsmedizin Berlin,Department of Ophthalmology
[2] University Medical Center Eppendorf,Children’s Hospital
[3] Sankt Gertrauden-Krankenhaus,Department of Ophthalmology
[4] Charité Augenklinik Campus Virchow-Klinikum,undefined
来源：
Graefe's Archive for Clinical and Experimental Ophthalmology | 2015年 / 253卷
关键词：
Neuronal ceroid lipofuscinosis; CLN3; Batten disease; Electroretinography; Optical coherence tomography;
D O I：
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中图分类号：
学科分类号：
摘要：
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页码：1245 / 1250
页数：5
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