Mutation analysis of the cystic fibrosis transmembrane conductance regulator gene in Chinese congenital absence of vas deferens patients

Shaoge Luo,Jiarong Feng,Yanan Zhang,Xiaojian Yang,Gongchao Ma,Tengfei Hu,Yu Xi,Xuchong Tu,Chunlin Wang,Hui Zhang,Zijun Zou,Yan Zhang

Gene（2021）

引用 4|浏览14

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摘要

•This study diagrammed the variant spectrum of CFTR gene in Chinese CAVD patients.•p.Q1352H is the most common and important missense variant in Chinese CAVD patients.•p.I556V and c.-8G > C both show a weak pathogenic effect in CAVD.

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关键词

CFTR,CAVD,CBAVD,CUAVD,CPAVD,CF,ABC,MSDs,NBDs,RD,ART,DNA,EDTA,PCR,OA,cDNA,CFTR2,HGMD,CPD,NA,PolyPhen-2,NetGene2,PROVEAN,ACMG,CADD,het,homo

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