家系全外显子组测序鉴定Wolfram综合征致病突变及其临床性状分析
Identification of pathogenic mutations for a Wolfram syndrome pedigree by whole exome sequencing and analysis of its clinical characteristics
家系全外显子组测序鉴定Wolfram综合征致病突变及其临床性状分析 |
| 孟祥雨, 闫丹丹, 陈香慧, 赖思宇, 徐云, 耿瑞娜, 张红, 张蓉, 胡承, 严婧 |
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Identification of pathogenic mutations for a Wolfram syndrome pedigree by whole exome sequencing and analysis of its clinical characteristics |
| MENG Xiangyu, YAN Dandan, CHEN Xianghui, LAI Siyu, XU Yun, GENG Ruina, ZHANG Hong, ZHANG Rong, HU Cheng, YAN Jing |
| 图5 WFS1 突变区域氨基酸序列保守性分析 |
| Fig 5 Conservative analysis of amino acid sequences of WFS1 mutation region |
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