Erratum: Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing
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چکیده
The fund agencies had no role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. "
منابع مشابه
Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing
Familial hypercholesterolaemia (FH) is a serious genetic metabolic disease. We identified a specific family in which the proband had typical homozygous phenotype of FH, but couldn't detect any mutations in usual pathogenic genes using traditional sequencing. This study is the first attempt to use whole exome sequencing (WES) to identify the pathogenic genes in Chinese FH. The routine examinatio...
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Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. We identified a new variation in SERAC1 as the cause of 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L), MEGDEL syndrome using WES. We found an insertion, rs797045105 (chr6, 158571484, C>CCATG), in the SERAC1 gene with homozygous genotype in ...
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عنوان ژورنال:
دوره 5 شماره
صفحات -
تاریخ انتشار 2015