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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

机译：一种新的椎体纤维化跨膜电导调节剂（CFTR）基因的新型畸形突变A1081p，其在患者患者中鉴定的VASian患者的患者缺失

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A. Ngukam;
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年度 2004
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1. 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。
2. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens [J] . LiH., WenQ., ZhaoL., Journal of cystic fibrosis: official journal of the European Cystic Fibrosis Society . 2012,第4期

机译：中国先天性双侧输精管缺乏患者的囊性纤维化跨膜电导调节剂（CFTR）突变
3. 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。
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. CFTR-associated ligand (CAL)-dependent post-Golgi trafficking of cystic fibrosis transmembrane conductance regulator (CFTR) is modulated by insulin-like growth factor 1 (IGF-1). [D] . Lee, Ha Won. 2012

机译：囊性纤维化跨膜电导调节剂（CFTR）的CFTR相关配体（CAL）依赖性高尔基体运输受到胰岛素样生长因子1（IGF-1）的调节。
6. Compound heterozygosity for the delta F508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens. [O] . D Meschede, A Eigel, J Horst, 1993

机译：患有先天性输精管双侧发育不全的患者的三角洲F508和F508C囊性纤维化跨膜电导调节剂（CFTR）突变的复合杂合性。
7. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens [O] . Li Hongjun, Wen Qiaolian, Li Hanzhong, 2012

机译：中国先天性双侧输精管缺乏患者的囊性纤维化跨膜电导调节剂（CFTR）突变

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

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