A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis.

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作者信息

Claustres M, Gerrard B, White M B, Desgeorges M, Kjellberg P, Rollin B, Dean M

机构信息

INSERM U249/CNRS UPR 8402, Institut de Biologie, Montpellier, France.

出版信息

Genomics. 1992 Jul;13(3):907-8. doi: 10.1016/0888-7543(92)90187-w.

DOI:10.1016/0888-7543(92)90187-w

PMID:1379211

Abstract

摘要

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A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis.

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Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.囊性纤维化跨膜传导调节因子（CFTR）基因第1至8外显子突变的鉴定。

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Hum Mutat. 1994;3(1):69-70. doi: 10.1002/humu.1380030113.

Mutation analysis in 600 French cystic fibrosis patients.对600名法国囊性纤维化患者的突变分析。

J Med Genet. 1994 Jul;31(7):541-4. doi: 10.1136/jmg.31.7.541.

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。

Hum Mol Genet. 1993 Mar;2(3):317-9. doi: 10.1093/hmg/2.3.317.

A deletion mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) locus: Delta I507.囊性纤维化跨膜传导调节因子（CFTR）基因座的缺失突变：ΔI507

Adv Exp Med Biol. 1991;290:393-8. doi: 10.1007/978-1-4684-5934-0_48.

Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.

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Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.囊性纤维化跨膜传导调节因子基因的呼吸道上皮mRNA转录本中核苷酸结合折叠区1部分编码序列的广泛转录后缺失与囊性纤维化的临床表现无关。

J Clin Invest. 1992 Sep;90(3):785-90. doi: 10.1172/JCI115952.

A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.囊性纤维化跨膜传导调节因子基因第20外显子中的一个新的错义突变（R1283M）。

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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。

Hum Mutat. 1992;1(4):310-3. doi: 10.1002/humu.1380010408.

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Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.在一大群德国囊性纤维化患者中检测到50多种不同的囊性纤维化跨膜传导调节因子（CFTR）突变。

Hum Genet. 1994 Nov;94(5):533-42. doi: 10.1007/BF00211022.

Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis.对大量囊性纤维化新生儿筛查干血滤纸片中囊性纤维化跨膜传导调节因子（CFTR）基因突变的回顾性研究。

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