包装D1
错义突变
先证者
桑格测序
遗传学
系谱图
生物
常染色体显性多囊肾病
多囊肾病
外显子组测序
无义突变
产前诊断
基因
突变
胎儿
肾
怀孕
作者
Huijun Li,Peixuan Cao,Xiangyu Zhu,Yujie Zhu,Desheng Wu,Jie Li
出处
期刊:PubMed
日期:2022-09-10
卷期号:39 (9): 932-937
标识
DOI:10.3760/cma.j.cn511374-20210715-00597
摘要
PKD1 variants, including three novel variants, have been identified in the eight pedigrees affected with ADPKD. Based on these results, prenatal diagnosis and genetic counseling have been provided.
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