首次报告两例具有复合杂合变异的囊性纤维化病例。 - Suppr

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超能文献

Two Cases of Cystic Fibrosis with Compound Heterozygous Variants Reported for the First Time.

作者信息

Yalçıntepe Sinem, Gürkan Hakan, Atlı Engin, Sayın Niyazi Cenk, Başaran Ümit Nusret

机构信息

Department of Medical Genetics, Trakya University School of Medicine, Edirne, Turkey

Department of Perinatology, Trakya University School of Medicine, Edirne, Turkey

出版信息

Balkan Med J. 2020 Aug 11;37(5):297-298. doi: 10.4274/balkanmedj.galenos.2020.2019.11.128. Epub 2020 Feb 28.

DOI:10.4274/balkanmedj.galenos.2020.2019.11.128

PMID:32106665

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7424187/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/833e/7424187/4b52cb9a1d5b/BMJ-37-297-g1.jpg

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The genetics and genomics of cystic fibrosis.囊性纤维化的遗传学和基因组学。

J Cyst Fibros. 2020 Mar;19 Suppl 1(Suppl 1):S5-S9. doi: 10.1016/j.jcf.2019.11.003. Epub 2019 Dec 23.

Genetic variation in CFTR and modifier loci may modulate cystic fibrosis disease severity.CFTR 和修饰基因座的遗传变异可能调节囊性纤维化疾病的严重程度。

J Cyst Fibros. 2020 Mar;19 Suppl 1(Suppl 1):S10-S14. doi: 10.1016/j.jcf.2019.11.001. Epub 2019 Nov 14.

Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records.基因组筛查的预测价值：对50788份电子健康记录中的囊性纤维化进行横断面研究。

NPJ Genom Med. 2019 Sep 4;4:21. doi: 10.1038/s41525-019-0095-6. eCollection 2019.

The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016.土耳其安纳托利亚中部地区 2015 年至 2016 年囊性纤维化的发病率。

Balkan Med J. 2019 May 10;36(3):179-183. doi: 10.4274/balkanmedj.galenos.2018.2018.1332. Epub 2018 Dec 28.

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