Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles
Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles
复制标题
扩大携带 CFTR 和 ADGRG2 等位基因的中国先天性输精管缺失患者的表型和遗传谱
DOI：
10.1111/andr.12592
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发表时间：
2019-05-01
期刊：
影响因子：
4.5
通讯作者：
Wang, W. J.
中科院分区：
文献类型：
--
作者：
Yuan, P.;Liang, Z. K.;Wang, W. J.
先天性输精管缺如（CAVD）是梗阻性无精子症的主要原因。CFTR和ADGRG2的突变是导致这种疾病的原因。然而，迄今为止，CFTR和ADGRG 2基因在中国人群中的遗传谱以及与高加索人群差异的原因尚不清楚。
Congenital absence of vas deferens (CAVD) is a major cause of obstructive azoospermia. Mutations in CFTR and ADGRG2 are responsible for this disease. However, until now the genetic spectrum of the CFTR and ADGRG2 genes in Chinese population and the reasons of the differences from Caucasian cohorts were not clear.