A new frameshift mutation 460delG in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
作者信息
Wagner K, Schneditz P, Rosenkranz W
机构信息
Institute of Medical Biology and Human Genetics, Graz, Austria.
出版信息
Hum Mutat. 1996;7(2):183. doi: 10.1002/humu.1380070203.
PMID:8829644
Abstract
摘要
相似文献
1
A new frameshift mutation 460delG in exon 4 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4外显子中的一个新的移码突变460delG。
Hum Mutat. 1996;7(2):183. doi: 10.1002/humu.1380070203.
2
A novel frameshift mutation, c.1870delG, in exon 12 of the CFTR gene.
Hum Mutat. 2000 Sep;16(3):277. doi: 10.1002/1098-1004(200009)16:3<277::AID-HUMU26>3.0.CO;2-S.
3
Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene.囊性纤维化跨膜传导调节因子（CFTR）基因第19外显子移码突变的分子特征分析
Hum Mutat. 1993;2(5):422-4. doi: 10.1002/humu.1380020517.
4
Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients.
Hum Mutat. 1992;1(1):75-6. doi: 10.1002/humu.1380010113.
5
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）。
Hum Mutat. 1994;3(1):69-70. doi: 10.1002/humu.1380030113.
6
7
Identification of a novel mutation (525del T) in exon 4 of the CFTR gene in a patient with cystic fibrosis.
Hum Mutat. 1999 Oct;14(4):357. doi: 10.1002/(SICI)1098-1004(199910)14:4<357::AID-HUMU21>3.0.CO;2-9.
8
Identification of a CFTR frameshift mutation (1013 delAA) in trans to delta F508 in a pancreatic sufficient cystic fibrosis patient.
Hum Mol Genet. 1994 Nov;3(11):2063-4.
9
Two novel frameshift deletions (1924del7, 2055del9-->A) in the CFTR gene in Mexican cystic fibrosis patients.
Hum Mutat. 1997;10(3):239-40. doi: 10.1002/(SICI)1098-1004(1997)10:3<239::AID-HUMU11>3.0.CO;2-0.
10
Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G.囊性纤维化跨膜传导调节因子基因中四个新突变的鉴定：I148T、L1077P、Y1092X、2183AA→G
Hum Mutat. 1994;3(3):330-2. doi: 10.1002/humu.1380030329.
Zotero 插件