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Open Med (Wars). 2023 Dec 16;18(1):20230863. doi: 10.1515/med-2023-0863. eCollection 2023.

本文引用的文献

1
High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO).意大利慢性非细菌性骨髓炎(CNO)患者队列中罕见 FBLIM1 基因突变的高发率。
Pediatr Rheumatol Online J. 2020 Jul 10;18(1):55. doi: 10.1186/s12969-020-00447-4.
2
Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups.FBLIM1 基因中的遗传变异与 SAPHO 综合征和典型患者群体中的慢性复发性多灶性骨髓炎无关。
BMC Med Genet. 2020 May 12;21(1):102. doi: 10.1186/s12881-020-01037-7.
3
The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registry.慢性复发性多灶性骨髓炎的多方面表现:来自欧洲发热国际登记处的486例病例系列
Rheumatology (Oxford). 2018 Jul 1;57(7):1203-1211. doi: 10.1093/rheumatology/key058.
4
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).FBLIM1基因的隐性编码和调控突变是慢性复发性多灶性骨髓炎(CRMO)发病机制的基础。
PLoS One. 2017 Mar 16;12(3):e0169687. doi: 10.1371/journal.pone.0169687. eCollection 2017.
5
Chronic recurrent multifocal osteomyelitis.慢性复发性多灶性骨髓炎。
Adv Exp Med Biol. 2013;764:99-107. doi: 10.1007/978-1-4614-4726-9_7.
6
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.基因组分析工具包:一种用于分析下一代 DNA 测序数据的 MapReduce 框架。
Genome Res. 2010 Sep;20(9):1297-303. doi: 10.1101/gr.107524.110. Epub 2010 Jul 19.
7
Fast and accurate long-read alignment with Burrows-Wheeler transform.基于 Burrows-Wheeler 变换的快速准确长读比对。
Bioinformatics. 2010 Mar 1;26(5):589-95. doi: 10.1093/bioinformatics/btp698. Epub 2010 Jan 15.

Genetics of chronic nonbacterial osteomyelitis in the irish population: no significant association with rare FBLIM1 variants.

作者信息

O'Leary Daire, Killeen Orla G, Wilson Anthony G

机构信息

National Centre for Paediatric Rheumatology, Children's Health Ireland, Dublin, Ireland.

UCD Centre for Arthritis Research, School of Medicine, University College Dublin, Dublin, Ireland.

出版信息

Pediatr Rheumatol Online J. 2021 Mar 17;19(1):32. doi: 10.1186/s12969-021-00533-1.

DOI:10.1186/s12969-021-00533-1
PMID:33731121
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7972187/
Abstract
摘要