Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes

被引：0
|
作者：
Worapoj Jinda
Aekkachai Tuekprakhon
Wanna Thongnoppakhun
Chanin Limwongse
Adisak Trinavarat
La-ongsri Atchaneeyasakul
机构：
[1] Mahidol University,Division of Medical Genetics Research and Laboratory, Research Department, Faculty of Medicine Siriraj Hospital
[2] Mahidol University,Clinical Molecular Pathology Laboratory, Department of Clinical Pathology, Faculty of Medicine Siriraj Hospital
[3] Mahidol University,Division of Medical Genetics, Department of Medicine, Faculty of Medicine Siriraj Hospital
[4] Mahidol University,Department of Ophthalmology, Faculty of Medicine Siriraj Hospital
来源：
International Ophthalmology | 2021年 / 41卷
关键词：
Achromatopsia; Disease-associated variants; Genotype–phenotype correlation;
D O I：
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学科分类号：
摘要：
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页码：121 / 134
页数：13
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