一名年轻的CFTR基因携带者，具有杂合的p.R117H CFTR基因突变和纯合的7T，其胰腺出现肿物。 - Suppr | 超能文献

Pancreatic mass in a young CFTR carrier with a heterozygous p.R117H CFTR gene mutation and homozygous 7T.

作者信息

Hanna Thomas, Abdul-Rahman Zainab, Greenhalf William, Costello Eithne, Neoptolemos John P

机构信息

National Institute for Health Research Liverpool Pancreas Biomedical Research Unit Royal Liverpool University Hospital Liverpool, UK Department of Cellular Pathology Royal Liverpool University Hospital Liverpool, UK National Institute for Health Research Liverpool Pancreas Biomedical Research Unit Royal Liverpool University Hospital Liverpool, UK National Institute for Health Research Liverpool Pancreas Biomedical Research Unit Royal Liverpool University Hospital Liverpool, UK

出版信息

Pancreas. 2015 Mar;44(2):343-5. doi: 10.1097/MPA.0000000000000244.

DOI:10.1097/MPA.0000000000000244

Abstract

摘要

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。

相似文献

1

Pancreatic mass in a young CFTR carrier with a heterozygous p.R117H CFTR gene mutation and homozygous 7T.一名年轻的CFTR基因携带者，具有杂合的p.R117H CFTR基因突变和纯合的7T，其胰腺出现肿物。

Pancreas. 2015 Mar;44(2):343-5. doi: 10.1097/MPA.0000000000000244.

2

Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.携带CFTR复合等位基因的囊性纤维化患者的基因型-表型相关性及功能研究。

J Med Genet. 2017 Apr;54(4):224-235. doi: 10.1136/jmedgenet-2016-103985. Epub 2016 Oct 13.

3

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma.囊性纤维化跨膜电导调节因子 (CFTR) 基因突变与胰腺腺癌风险。

Cancer. 2010 Jan 1;116(1):203-9. doi: 10.1002/cncr.24697.

4

Clinical phenotype of cystic fibrosis patients with the G551D mutation.囊性纤维化患者 G551D 突变的临床表型。

QJM. 2009 Nov;102(11):793-8. doi: 10.1093/qjmed/hcp120. Epub 2009 Sep 4.

5

Use of ivacaftor in late diagnosed cystic fibrosis monozygotic twins heterozygous for F508del and R117H-7T - a case report.使用 ivacaftor 治疗 F508del 和 R117H-7T 杂合子的晚诊断囊性纤维化单卵双胞胎 - 病例报告。

BMC Pulm Med. 2019 Apr 11;19(1):76. doi: 10.1186/s12890-019-0840-8.

6

Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease.囊性纤维化（CFTR）基因中可变长度多聚胸腺嘧啶序列的快速鉴定：5T等位基因与特定CFTR突变的关联及其在非典型鼻窦肺部疾病中的发生率

Hum Mutat. 1997;10(2):108-15. doi: 10.1002/(SICI)1098-1004(1997)10:2<108::AID-HUMU3>3.0.CO;2-G.

7

Cystic Fibrosis Gene Mutation Frequency Among a Group of Suspected Children in King Hussein Medical Center.侯赛因国王医疗中心一组疑似儿童的囊性纤维化基因突变频率

Med Arch. 2019 Apr;73(2):118-120. doi: 10.5455/medarh.2019.73.118-120.

8

Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels?用于囊性纤维化的免疫反应性胰蛋白酶/DNA新生儿筛查：CFTR突变检测组合中是否应纳入R117H变异？

Pediatrics. 2006 Nov;118(5):e1523-9. doi: 10.1542/peds.2005-3161. Epub 2006 Oct 2.

9

[Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis].[囊性纤维化患儿胃肠道症状的基因型与表型分析]

Pol Merkur Lekarski. 2005 Feb;18(104):205-9.

10

Assessment of CFTR function in homozygous R117H-7T subjects.评估纯合 R117H-7T 受试者的 CFTR 功能。

J Cyst Fibros. 2011 Sep;10(5):326-32. doi: 10.1016/j.jcf.2011.03.009. Epub 2011 Apr 19.

引用本文的文献

1

Screening strategy for gastrointestinal and hepatopancreatobiliary cancers in cystic fibrosis.囊性纤维化患者胃肠道和肝胆胰癌症的筛查策略

World J Gastrointest Oncol. 2021 Sep 15;13(9):1121-1131. doi: 10.4251/wjgo.v13.i9.1121.