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Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling

机译：囊性纤维化跨膜电导调节剂（CFTR）基因重排的检测丰富先天性双侧缺失的突变谱和对遗传咨询的影响

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Ilham Ratbi; Marie Legendre; Florence Niel; Josiane Martin; Jean-Claude Soufir; Vincent Izard; Bruno Costes; Catherine Costa; Michel Goossens; Emmanuelle Girodon;
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年度 2007
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1. Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. [J] . Ratbi I, Legendre M, Niel F, Human Reproduction . 2007,第5期

机译：囊性纤维化跨膜电导调节剂（CFTR）基因重排的检测可丰富先天性双侧输精管缺失的突变谱，并影响遗传咨询。
2. Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling [J] . Ilham Ratbi1 Marie Legendre1 Florence Niel1 Josiane Martin1 Jean-Claude Soufir2 Vincent Izard3 Bruno Costes1 Catherine Costa1 Michel Goossens1 and Emmanuelle Girodon14 Human Reproduction . 2007,第5期

机译：囊性纤维化跨膜电导调节剂（CFTR）基因重排的检测可丰富先天性双侧输精管缺失的突变谱并影响遗传咨询
3. A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens. [J] . Ngukam A, Jacquemont ML, Souville I, Journal of tropical pediatrics. . 2004,第4期

机译：在患有先天性双侧输精管缺失的老挝患者中鉴定出的一种新的错义突变A1081P在囊性纤维化跨膜电导调节器（CFTR）基因中。
4. Cystic fibrosis transmembrane conductance regulator gene mutations cause 'black' pigment gallstone formation: new insights from mouse models and implications for therapeutic interventions in cystic fibrosis [C] . A. L. BRODERICK, H. WITTENBURG, M. A. LYONS, Falk Symposium . 2004

机译：囊性纤维化跨膜电导调节剂基因突变引起'黑色'颜料胆结石形成：来自小鼠模型的新见解，以及对囊性纤维化治疗干预的影响
5. Epitope-tagging of cystic fibrosis transmembrane conductance regulator (CFTR) for the detection of interacting proteins during its biosynthesis. [D] . Chen, Kathy. 2000

机译：囊性纤维化跨膜电导调节剂（CFTR）的表位标记在其生物合成过程中用于检测相互作用的蛋白质。
6. Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens renal anomalies [O] . Rahul Gajbhiye, Kaushiki Kadam, Aalok Khole, 2016

机译：印度男性先天性双侧无输精管和肾脏异常的囊性纤维化跨膜电导调节剂（CFTR）基因异常
7. Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review) [O] . Xiangrong Cui, Xueqing Wu, Qiang Li, 2020

机译：具有先天性双侧缺失的胎儿囊性纤维化跨膜电导胁迫基因的突变，输精管缺失：生殖影响和遗传咨询（审查）

Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling

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