携带3272-26A>G突变的患者表现出轻度囊性纤维化表型。 - Suppr

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超能文献

Mild cystic fibrosis phenotype in patients with the 3272-26A > G mutation.

作者信息

Kanavakis E, Tzetis M, Antoniadi T, Trager-Synodinos J, Kattamis C, Doudounakis S, Adam G

出版信息

J Med Genet. 1995 May;32(5):406-7. doi: 10.1136/jmg.32.5.406.

DOI:10.1136/jmg.32.5.406

PMID:7542347

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050447/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/78ae/1050447/2360a806e102/jmedgene00272-0080-a.jpg

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本文引用的文献

Long-term study of one hundred five patients with cystic fibrosis; studies made over a five- to fourteen-year period.对105例囊性纤维化患者进行的长期研究；研究历时5至14年。

AMA J Dis Child. 1958 Jul;96(1):6-15. doi: 10.1001/archpedi.1958.02060060008002.

Genotype-phenotype correlations in cystic fibrosis.囊性纤维化的基因型-表型相关性

Lancet. 1994 Mar 26;343(8900):746-7. doi: 10.1016/s0140-6736(94)91832-5.

Couple screening for cystic fibrosis.囊性纤维化的夫妻筛查。

Lancet. 1993 Nov 20;342(8882):1307-8. doi: 10.1016/0140-6736(93)92403-g.

Four novel cystic fibrosis mutations in splice junction sequences affecting the CFTR nucleotide binding folds.

Genomics. 1993 Mar;15(3):688-91. doi: 10.1006/geno.1993.1127.

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.通过聚合酶链反应生成单链DNA及其在HLA - DQA基因座直接测序中的应用。

Proc Natl Acad Sci U S A. 1988 Oct;85(20):7652-6. doi: 10.1073/pnas.85.20.7652.

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.

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.囊性纤维化的分子特征：通过对整个囊性纤维化跨膜传导调节因子（CFTR）编码区和剪接位点连接进行分析鉴定出16种新突变。

Genomics. 1992 Jul;13(3):770-6. doi: 10.1016/0888-7543(92)90152-i.

Genetic determination of exocrine pancreatic function in cystic fibrosis.囊性纤维化中外分泌胰腺功能的遗传决定因素

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