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Biochemical and molecular genetics of cystic fibrosis.

作者信息

Tsui L C, Buchwald M

机构信息

Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.

出版信息

Adv Hum Genet. 1991;20:153-266, 311-2. doi: 10.1007/978-1-4684-5958-6_4.

DOI:10.1007/978-1-4684-5958-6_4
PMID:1724873
Abstract
摘要

相似文献

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Biochemical and molecular genetics of cystic fibrosis.囊性纤维化的生化与分子遗传学
Adv Hum Genet. 1991;20:153-266, 311-2. doi: 10.1007/978-1-4684-5958-6_4.
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A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
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Probing the basic defect in cystic fibrosis.探究囊性纤维化的基本缺陷。
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[Molecular biological analysis of cystic fibrosis--a model example for the strategy of "reverse genetics"].[囊性纤维化的分子生物学分析——“反向遗传学”策略的一个典型例子]
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A tetranucleotide repeat polymorphism in the cystic fibrosis gene.囊性纤维化基因中的四核苷酸重复多态性。
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Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis.囊性纤维化跨膜传导调节因子与囊性纤维化的病因及发病机制
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Molecular genetics of cystic fibrosis.囊性纤维化的分子遗传学
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Clinical Observations in Patients With Cystic Fibrosis-Related Diabetes and Self-Reported Ototoxicity Symptoms.囊性纤维化相关糖尿病患者及自我报告耳毒性症状患者的临床观察
Am J Audiol. 2023 Nov 28;33(1):1-9. doi: 10.1044/2023_AJA-22-00237.
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Respiratory Infection and Inflammation in Cystic Fibrosis: A Dynamic Interplay among the Host, Microbes, and Environment for the Ages.囊性纤维化中的呼吸感染和炎症:宿主、微生物和环境之间的动态相互作用贯穿始终。
Int J Mol Sci. 2023 Feb 17;24(4):4052. doi: 10.3390/ijms24044052.
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Dental caries prevalence in children and adolescents with cystic fibrosis: a qualitative systematic review and recommendations for future research.
囊性纤维化儿童和青少年的龋齿患病率:一项定性系统评价及对未来研究的建议
Int J Paediatr Dent. 2013 Sep;23(5):376-86. doi: 10.1111/ipd.12042. Epub 2013 Jun 12.
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The cystic fibrosis gene: a molecular genetic perspective.囊性纤维化基因:分子遗传学视角。
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Mechanism of multidrug recognition by MDR1/ABCB1.MDR1/ABCB1对多种药物的识别机制。
Cancer Sci. 2007 Sep;98(9):1303-10. doi: 10.1111/j.1349-7006.2007.00538.x. Epub 2007 Jun 30.
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Inhibition of cystic fibrosis transmembrane conductance regulator by novel interaction with the metabolic sensor AMP-activated protein kinase.通过与代谢传感器AMP活化蛋白激酶的新型相互作用抑制囊性纤维化跨膜传导调节因子
J Clin Invest. 2000 Jun;105(12):1711-21. doi: 10.1172/JCI9622.
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Functional expression and apical localization of the cystic fibrosis transmembrane conductance regulator in MDCK I cells.囊性纤维化跨膜传导调节因子在MDCK I细胞中的功能表达及顶端定位
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Dornase alfa. A review of its pharmacological properties and therapeutic potential in cystic fibrosis.Dornase alfa。其药理学特性及在囊性纤维化中的治疗潜力综述。
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Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.对五种突变进行筛查可检测出97%的囊性纤维化(CF)染色体,并预测在犹太阿什肯纳兹人群中携带者频率为1:29。
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