一例患有罕见突变（3849 + 10 kbC>T）且汗液氯化物水平正常的囊性纤维化病例。 - Suppr

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A Case of Cystic Fibrosis With a Rare Mutation (3849 + 10 kbC > T) and Normal Sweat Chloride Levels.

作者信息

Ozdemir Taha Resid, Kanik Ali

机构信息

Genetic Diagnostic Center, Izmir Tepecik Training and Research Hospital, Izmir, Turkey.

Izmir Tepecik Training and Research Hospital, Izmir, Turkey.

出版信息

Iran J Pediatr. 2015 Apr;25(2):e369. doi: 10.5812/ijp.369. Epub 2015 Apr 18.

DOI:10.5812/ijp.369

PMID:26196003

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4506007/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bd9/4506007/410932b195d2/ijp-25-369-i001.jpg

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本文引用的文献

Cystic fibrosis: experience in one institution.囊性纤维化：一家机构的经验

J Microbiol Immunol Infect. 2014 Aug;47(4):358-61. doi: 10.1016/j.jmii.2012.06.005. Epub 2012 Sep 16.

Diverse genotypical features and impacts on clinical course and severity of cystic fibrosis: early childhood experience.囊性纤维化的多种基因型特征及其对临床病程和严重程度的影响：儿童早期经历

Minerva Pediatr. 2011 Jun;63(3):169-75.

The CFTR 3849+10kbC->T and 2789+5G->A alleles are associated with a mild CF phenotype.CFTR基因3849+10kbC→T和2789+5G→A等位基因与轻度囊性纤维化（CF）表型相关。

Eur Respir J. 2005 Mar;25(3):468-73. doi: 10.1183/09031936.05.10100004.

CFTR genotypes in patients with normal or borderline sweat chloride levels.汗液氯化物水平正常或临界的患者的CFTR基因分型

Hum Mutat. 2003 Oct;22(4):340. doi: 10.1002/humu.9183.

Clinical spectrum in homozygotes and compound heterozygotes inheriting cystic fibrosis mutation 3849 + 10kbC > T: significance for geneticists.携带囊性纤维化突变3849 + 10kbC>T的纯合子和复合杂合子的临床谱：对遗传学家的意义

Am J Med Genet. 1995 Sep 25;58(4):356-9. doi: 10.1002/ajmg.1320580411.

Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation.携带3849 + 10 kb C→T突变的患者出现轻度囊性纤维化且汗液试验结果正常或接近临界值。

Lancet. 1993 Jul 3;342(8862):25-6. doi: 10.1016/0140-6736(93)91885-p.

3849+10 kb C-->T mutation and disease severity in cystic fibrosis.

Lancet. 1995 Jul 29;346(8970):274-6. doi: 10.1016/s0140-6736(95)92165-6.

Study of 12 mutations in Turkish cystic fibrosis patients.

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