Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis.
作者信息
Romey M C, Desgeorges M, Laussel M, Durand M F, Demaille J, Claustres M
机构信息
Laboratoire de Biochimie Génétique, CNRS UPR-9008, INSERM U249 & GREPAM, Montpellier, France.
出版信息
Hum Mol Genet. 1994 Jun;3(6):1003-4. doi: 10.1093/hmg/3.6.1003.
PMID:7524910
Abstract
摘要
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1
Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis.在一名囊性纤维化患者中鉴定出两个新的罕见移码突变（外显子13中的2423delG和外显子7中的1215delG）以及一个新的罕见序列变异（3271 + 18C或T）。
Hum Mol Genet. 1994 Jun;3(6):1003-4. doi: 10.1093/hmg/3.6.1003.
2
Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8.
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3
Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene.通过反向点杂交以及对CFTR基因完整编码区和外显子/内含子连接区进行测序，在200个比利时囊性纤维化等位基因中检测到98.5%的突变。
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Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients.
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5
Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).在一名非裔美国人（CF444delA）、一名意大利人（CF2522insC）和一名苏联人（CF3821delT）中检测到囊性纤维化基因的三种罕见移码突变。
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6
Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene.在囊性纤维化跨膜传导调节因子（CFTR）基因第19外显子中鉴定出一种新的移码突变（3724delG）。
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7
Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.囊性纤维化跨膜传导调节因子（CFTR）基因的两个新型移码突变：外显子6B中的977位插入A，以及外显子21中的4016位插入T。
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8
Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.囊性纤维化跨膜传导调节因子（CFTR）基因中八个突变和三个序列变异的鉴定。
Genomics. 1994 May 15;21(2):434-6. doi: 10.1006/geno.1994.1290.
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Identification of a 31-bp insertion (3860ins31) in exon 20 of the cystic fibrosis (CFTR) gene.在囊性纤维化（CFTR）基因第20外显子中鉴定出一个31碱基对的插入（3860ins31）。
Hum Mol Genet. 1993 Aug;2(8):1317-8. doi: 10.1093/hmg/2.8.1317.
10
Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variations.法国南部囊性纤维化突变的筛查：一个移码突变和两个错义变异的鉴定。
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