囊性纤维化跨膜传导调节因子（CFTR）基因第二个跨膜结构域中的移码突变（2869insG）：鉴定、区域分布及临床表现 - Suppr

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超能文献

A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.

作者信息

Nunes V, Bonizzato A, Gaona A, Dognini M, Chillón M, Casals T, Pignatti P F, Novelli G, Estivill X, Gasparini P

出版信息

Am J Hum Genet. 1992 May;50(5):1140-2.

PMID:1373935

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1682605/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3899/1682605/934557713c2b/ajhg00076-0260-a.jpg

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A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.囊性纤维化跨膜传导调节因子（CFTR）基因第二个跨膜结构域中的移码突变（2869insG）：鉴定、区域分布及临床表现

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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

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本文引用的文献

Delta F508 gene deletion in cystic fibrosis in southern Europe.

Lancet. 1989 Dec 9;2(8676):1404. doi: 10.1016/s0140-6736(89)92024-2.

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.在与囊性纤维化基因的两个假定核苷酸（ATP）结合折叠相对应的区域中鉴定突变。

Proc Natl Acad Sci U S A. 1990 Nov;87(21):8447-51. doi: 10.1073/pnas.87.21.8447.

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.两名患有囊性纤维化的患者，每个囊性纤维化基因都存在无义突变，且患有轻度肺部疾病。

N Engl J Med. 1990 Dec 13;323(24):1685-9. doi: 10.1056/NEJM199012133232407.

The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.对南欧囊性纤维化突变的研究：鉴定出两个新突变、四个变异体及内含子序列。

Genomics. 1991 May;10(1):193-200. doi: 10.1016/0888-7543(91)90500-e.

A mutation in the second nucleotide binding fold of the cystic fibrosis gene.囊性纤维化基因第二个核苷酸结合结构域中的突变。

Am J Hum Genet. 1991 Mar;48(3):608-12.

Analysis of 14 cystic fibrosis mutations in five south European populations.

Hum Genet. 1991 Oct;87(6):737-8. doi: 10.1007/BF00201737.

Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families.西班牙囊性纤维化家族遗传咨询中的突变与连锁不平衡分析

J Med Genet. 1991 Nov;28(11):771-6. doi: 10.1136/jmg.28.11.771.

CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.囊性纤维化跨膜传导调节因子（CFTR）基因内的CA/GT微卫星等位基因并非由不等交换产生。

Genomics. 1991 Jul;10(3):692-8. doi: 10.1016/0888-7543(91)90454-m.

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.囊性纤维化跨膜传导调节因子（CFTR）基因的基因组DNA序列。

Genomics. 1991 May;10(1):214-28. doi: 10.1016/0888-7543(91)90503-7.

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