Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland.
作者信息
Hughes D, Dörk T, Stuhrmann M, Graham C
出版信息
J Med Genet. 2001 Feb;38(2):136-9. doi: 10.1136/jmg.38.2.136.
Abstract
摘要
相似文献
1
Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland.北爱尔兰非典型轻度囊性纤维化患者CFTR基因的突变与单倍型分析
J Med Genet. 2001 Feb;38(2):136-9. doi: 10.1136/jmg.38.2.136.
2
Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia.爱沙尼亚囊性纤维化患者中CFTR基因突变的分布情况。
J Med Genet. 2000 Aug;37(8):E16. doi: 10.1136/jmg.37.8.e16.
3
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.CFTR基因第7外显子中的一个2个氨基酸插入突变（1243insACAAAA）。
Hum Mutat. 1998;Suppl 1:S156-7. doi: 10.1002/humu.1380110152.
4
The 3120 +1G-->A splicing mutation in CFTR is common in Brazilian cystic fibrosis patients.CFTR基因中3120 +1G→A的剪接突变在巴西囊性纤维化患者中很常见。
Hum Biol. 2001 Jun;73(3):403-9. doi: 10.1353/hub.2001.0031.
5
Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis.囊性纤维化患者家庭中的囊性纤维化跨膜传导调节因子单倍型
Gene. 2018 Jan 30;641:137-143. doi: 10.1016/j.gene.2017.10.052. Epub 2017 Oct 18.
6
Is the spectrum of mutations in Indian patients with cystic fibrosis different?印度囊性纤维化患者的基因突变谱是否不同？
Am J Med Genet. 2000 Jul 17;93(2):161-3. doi: 10.1002/1096-8628(20000717)93:2<161::aid-ajmg15>3.0.co;2-l.
7
Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.伊朗囊性纤维化患者CFTR基因分析：鉴定出八个新突变
J Cyst Fibros. 2008 Mar;7(2):102-9. doi: 10.1016/j.jcf.2007.06.001. Epub 2007 Jul 27.
8
Genetics of Cystic Fibrosis: Clinical Implications.囊性纤维化的遗传学：临床意义
Clin Chest Med. 2016 Mar;37(1):9-16. doi: 10.1016/j.ccm.2015.11.002. Epub 2015 Dec 24.
9
Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.一项大型欧洲研究表明，携带3272-26A>G剪接突变的囊性纤维化患者病情比F508del纯合子患者轻。
J Med Genet. 2001 Nov;38(11):777-83. doi: 10.1136/jmg.38.11.777.
10
High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis.特发性支气管扩张症患儿中T9和CFTR突变的高频率
J Med Genet. 2003 Jul;40(7):530-5. doi: 10.1136/jmg.40.7.530.
引用本文的文献
1
Analysis of CFTR Gene Variants in Idiopathic Bronchiectasis in Serbian Children.塞尔维亚儿童特发性支气管扩张症中CFTR基因变异分析
Pediatr Allergy Immunol Pulmonol. 2013 Jun;26(2):93-98. doi: 10.1089/ped.2013.0238.
2
Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis.CFTR 和 SPINK1 变异体中联合的碳酸氢盐传导障碍变异体与无囊性纤维化患者的慢性胰腺炎有关。
Gastroenterology. 2011 Jan;140(1):162-71. doi: 10.1053/j.gastro.2010.10.045. Epub 2010 Oct 25.
3
Genetics of sarcoidosis: candidate genes and genome scans.结节病的遗传学：候选基因与全基因组扫描
Proc Am Thorac Soc. 2007 Jan;4(1):108-16. doi: 10.1513/pats.200607-141JG.
4
Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis.具有“非典型”囊性纤维化特征患者的表型和基因特征分析
J Pediatr. 2005 May;146(5):675-80. doi: 10.1016/j.jpeds.2004.12.020.
Zotero 插件