Identification of Mutation in SCN4A, Hot-Spot for Periodic Paralyses, in a Large Chinese Family with a Typical Normokalemic PP Using the Whole-Exome Sequencing
نویسندگان
چکیده
منابع مشابه
Whole Exome Sequencing for Mutation Screening in Hemophagocytic Lymphohistiocytosis
Background: Hemophagocytic lymphohistiocytosis (HLH) is an immune system disorder characterized by uncontrolled hyper-inflammation owing to hypercytokinemia from the activated but ineffective cytotoxic cells. Establishing a correct diagnosis for HLH patients due to the similarity of this disease with other conditions like malignant lymphoma and leukemia and similarity among its two forms is dif...
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Autosomal dominant congenital cataract (ADCC) is a clinically and genetically heterogeneous ocular disease in children that results in serious visual impairments or even blindness. Targeted exome sequencing (TES) is an efficient method used for genetic diagnoses of inherited diseases. In the present study, we used a custom-made TES panel to identify the genetic defect of a four-generation Chine...
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ژورنال
عنوان ژورنال: Biomedical Journal of Scientific & Technical Research
سال: 2020
ISSN: 2574-1241
DOI: 10.26717/bjstr.2020.25.004260