Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations

被引:0
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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
关键词
Neuronal ceroid lipofuscinosis; CLN3; Batten disease; Electroretinography; Optical coherence tomography;
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学科分类号
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页码:1245 / 1250
页数:5
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