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MALDI-TOF mass spectrometry-based assay for CFTR gene mutation analysis in cystic fibrosis newborn screening programs

机译：基于MALDI-TOF质谱的囊性纤维化新生儿筛查程序中CFTR基因突变分析的方法

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Raña-Díez P.; Colón C.; Alonso-Fernández J.R.; Fraga J.M.; Carracedo A.; Barros F.;
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1. Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis [J] . P. Gasparini, E. Arbustini, G. Restagno, Journal of medical screening . 1999,第2期

机译：通过聚合酶链反应/寡核苷酸连接法分析31个CFTR突变，初步筛查4476例新生儿的囊性纤维化
2. Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis [J] . Suzanne K. Cordovado, Miyono M. Hendrix, Stephanie L. Foster Journal of Inborn Errors of Metabolism & Screening . 2016,第10期

机译：CFTR突变检测和基因测序的新生儿筛查质量保证计划，以鉴定囊性纤维化
3. Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis. [J] . Ivady G, Madar L, Nagy B, Journal of cystic fibrosis: official journal of the European Cystic Fibrosis Society . 2011,第3期

机译：匈牙利东部人CFTR突变的分布：与基因检测和囊性纤维化新生儿筛查的相关性。
4. Quantitative mass spectrometry for analysis of membrane expression of cystic fibrosis transmembrane conductance regulator (CFTR) [C] . Alexis A. Ramos, Bonita A. Coutermarsh, Pamela C. Diego, ASMS Conference on Mass Spectrometry and Allied Topics . 2008

机译：囊性纤维化跨膜电导调节器（CFTR）膜表达分析的定量质谱
5. Development of Mass Spectrometry-Based Assays for Newborn Screening: Novel Approaches to Lysosomal Acid Lipase and the Mucopolysaccharidoses [D] . Masi, Sophia. 2018

机译：新生儿筛查基于质谱的测定的研制：新生儿溶酶酸脂肪酶和粘性多糖的方法
6. Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis [O] . Miyono M. Hendrix, Stephanie L. Foster, Suzanne K. Cordovado -1

机译：CFTR突变检测和基因测序的新生儿筛查质量保证计划以鉴定囊性纤维化
7. Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis [O] . P. Gasparini, E. Arbustini, G. Restagno, 1999

机译：通过聚合酶链反应/寡核苷酸结扎测定分析31种CFTR突变在4476新生儿进行囊性纤维化中的试验筛查中

MALDI-TOF mass spectrometry-based assay for CFTR gene mutation analysis in cystic fibrosis newborn screening programs

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