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Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele.

作者信息

Uguen Kevin, Scotet Virginie, Ka Chandran, Gourlaouen Isabelle, L'hostis Carine, Merour Marie-Christine, Cuppens Tania, Ferec Claude, Le Gac Gerald

机构信息

Université Bretagne Loire, Université de Bretagne Occidentale, IBSAM, Brest, France.

Inserm U1078, Brest, France.

出版信息

Am J Hematol. 2017 Dec;92(12):E664-E666. doi: 10.1002/ajh.24912. Epub 2017 Oct 23.

DOI:10.1002/ajh.24912
PMID:29084376
Abstract
摘要

相似文献

1
Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele.
Am J Hematol. 2017 Dec;92(12):E664-E666. doi: 10.1002/ajh.24912. Epub 2017 Oct 23.
2
An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.一例因HFE基因新的复合杂合性（p.[甘氨酸43天冬氨酸；组氨酸63天冬氨酸]+[半胱氨酸282酪氨酸]）导致的血色素沉着症罕见病例：与转铁蛋白受体1结合的结构意义
Hum Mutat. 2008 Jan;29(1):206. doi: 10.1002/humu.9517.
3
Hemochromatosis gene HFE Cys282Tyr mutation analysis in a cohort of Northeast German hospitalized patients supports assumption of a North to South allele frequency gradient throughout Germany.对一群德国东北部住院患者进行的血色素沉着症基因HFE Cys282Tyr突变分析，支持了德国存在从北到南等位基因频率梯度的假设。
Clin Lab. 2005;51(9-10):539-43.
4
Prevalence of the Cys282Tyr and His63Asp mutation in Flemish patients with hereditary hemochromatosis.佛兰芒遗传性血色素沉着症患者中Cys282Tyr和His63Asp突变的患病率。
Acta Gastroenterol Belg. 2000 Jul-Sep;63(3):250-3.
5
Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.通过靶向下一代测序鉴定意大利不明原因铁过载患者铁沉积症基因中的新突变。
Am J Hematol. 2016 Jun;91(4):420-5. doi: 10.1002/ajh.24304.
6
Proprotein convertase 7 rs236918 associated with liver fibrosis in Italian patients with HFE-related hemochromatosis.在意大利患有HFE相关血色素沉着症的患者中，前蛋白转化酶7基因rs236918与肝纤维化相关。
J Gastroenterol Hepatol. 2016 Jul;31(7):1342-8. doi: 10.1111/jgh.13315.
7
Analysis of HFE mutations and non-HFE gene mutations (TFR2 and SLC40A1) in patients with phenotypic hemochromatosis from the Basque Country.对来自巴斯克地区的表型血色素沉着症患者的HFE基因突变和非HFE基因突变（TFR2和SLC40A1）进行分析。
Int J Lab Hematol. 2016 Feb;38(1):e5-7. doi: 10.1111/ijlh.12444. Epub 2015 Nov 7.
8
Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.血色素沉着症二代测序基因检测板的临床评估
Eur J Haematol. 2017 Mar;98(3):228-234. doi: 10.1111/ejh.12820. Epub 2016 Nov 11.
9
[From gene to disease; HFE-mutations in primary haemochromatosis].[从基因到疾病；原发性血色素沉着症中的HFE突变]
Ned Tijdschr Geneeskd. 2003 Apr 5;147(14):652-6.
10
HFE-Related Hereditary Hemochromatosis Is Not Invariably a Disease of Adulthood: Importance of Early Diagnosis and Phlebotomy in Childhood.与HFE相关的遗传性血色素沉着症并非总是成人疾病：儿童早期诊断和放血疗法的重要性。
J Pediatr Gastroenterol Nutr. 2016 Apr;62(4):e35-7. doi: 10.1097/MPG.0000000000000478.

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MRI-Based Iron Phenotyping and Patient Selection for Next-Generation Sequencing of Non-Homeostatic Iron Regulator Hemochromatosis Genes.基于 MRI 的铁表型分析及非稳态铁调节基因遗传性血色素沉着症患者的下一代测序选择。
Hepatology. 2021 Nov;74(5):2424-2435. doi: 10.1002/hep.31982. Epub 2021 Jul 13.